Archive for the ‘DNA Reasearch’ Category
Blood Antibody May Signal Start of Ovarian Cancer
Last Updated on Wednesday, 17 August 2011 02:49 Written by admin Wednesday, 17 August 2011 02:49
WEDNESDAY, Aug. 17 (HealthDay News) — Researchers have found an antibody that might someday be useful in identifying women who have a higher risk of ovarian cancer, or possibly diagnosing early ovarian cancer.
This particular antibody, which was detected in blood, develops as an immune system response to a protein called mesothelin. This protein is present in advanced ovarian cancer. Although mesothelin is found in normal tissue, it’s found in abundance in ovarian cancer cells.
The current study found that infertile women, who are known to have an increased risk of ovarian cancer, were more likely to have the mesothelin antibody. The researchers also found that women with ovarian cancer were more likely to have this antibody.
“We’re taking a novel approach to try to identify earlier biomarkers of ovarian cancer by looking at high-risk women,” said study author Judith Luborsky, a professor of pharmacology, obstetrics and gynecology, and preventive medicine at Rush University Medical Center in Chicago.
“This study found that there are antibodies to mesothelin circulating in women that have infertility,” noted Dr. Len Lichtenfeld, deputy chief medical officer of the American Cancer Society. Exactly what these findings mean isn’t yet clear, however. “Are these women who will develop ovarian cancer? Are these antibodies related to infertility? This research gives us some clues, and leads to many more questions,” he said.
As for an individual woman who’s currently concerned about ovarian cancer, Lichtenfeld said, “I would be very cautious about drawing any conclusion about the meaning of an elevated antibody level in an individual woman.”
Results of the study will be published Aug. 17 in the online version of the journal Cancer Epidemiology, Biomarkers & Prevention.
Almost 22,000 American women are diagnosed with ovarian cancer each year, and more than 15,000 women die each year as a result of this disease, reports the American Cancer Society.
Most women who develop ovarian cancer aren’t diagnosed until the disease is advanced. If it’s found early, ovarian cancer has a five-year survival rate of 94 percent, according to the cancer society. Two tests that experts hoped would help change that — a combination of transvaginal ultrasound and a blood test for CA-125, a marker associated with ovarian cancer — haven’t reduced a woman’s risk of dying from ovarian cancer, according to a recent study in the Journal of the American Medical Association.
Luborsky and her colleagues wanted to try to find a way to detect early cancer or a screening test for who’s at high risk for ovarian cancer before the cancer develops. Testing for mesothelin wouldn’t work, because it isn’t found at high levels until the cancer is advanced.
So, instead of looking for mesothelin, the researchers looked at a group of 109 infertile women, 28 women with ovarian cancer, and 24 women with benign ovarian cysts or tumors to see if these groups had antibodies to mesothelin. They also compared the three groups of women to healthy women to see if mesothelin antibodies were present.
Significant levels of mesothelin antibodies were found in women with ovarian cancer and in women with unexplained infertility or women who were infertile due to premature ovarian failure or ovulation problems. Women who were infertile due to endometriosis didn’t have significant levels of mesothelin antibodies, according to the study. Healthy women, and women with benign ovarian growths also didn’t have significant levels of mesothelin antibodies, the investigators found.
“There’s a lot more we have to learn, but our aim would be for a screening test that could improve detection,” said Luborsky.
Source: http://health.usnews.com/health-news/family-health/cancer/articles/2011/08/17/blood-antibody-may-signal-start-of-ovarian-cancer
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Five Genes May Be Tied to Lethal Prostate Cancer
Last Updated on Tuesday, 16 August 2011 02:42 Written by admin Tuesday, 16 August 2011 02:42
TUESDAY, Aug. 16 (HealthDay News) — In what may be a diagnostic advance, U.S. and Swedish researchers have linked five inherited genetic mutations to the development of a particularly aggressive and deadly form of prostate cancer.
The findings could someday lead to development of an easy-to-administer blood test to screen for such mutations to help physicians assess the long-term risk faced by newly diagnosed prostate cancer patients, the researchers suggested.
“The ability to distinguish patients at elevated risk for having aggressive, life-threatening prostate cancer at the time of diagnosis could improve care for the subset of cases most likely to benefit from aggressive therapy and help avoid over-treatment of patients whose tumors are likely to remain indolent,” the study team, led by Janet L. Stanford, co-director of the Fred Hutchinson Cancer Research Center’s program in prostate cancer research, reported in the Aug. 16 online edition of Cancer Epidemiology, Biomarkers and Prevention.
At issue are longstanding concerns about unnecessary over-treatment of many prostate cancer patients who actually face a relatively low risk for fast disease progression and death. Because treatment can bring about undesirable side effects, such as sexual impotence and urinary incontinence, an effort has been under way to achieve a more personalized assessment of a patient’s particular prognosis after diagnosis.
“Biomarkers that could distinguish between patients with indolent vs. more aggressive tumors are urgently needed,” Stanford said in a journal news release. “The panel of markers we’ve identified provides the first validated evidence that inherited genetic variants play a role in prostate cancer progression and mortality. Ultimately these markers could be used in the clinic, along with other known predictors that are used to assess tumor aggressiveness, such as a high Gleason score, to identify men with a high-risk profile.”
The authors, looking for genetic differences that could highlight risk differences, gathered blood samples from more than 1,300 prostate cancer patients living in the Seattle region. All were between the ages of 35 and 74 when diagnosed.
DNA analyses of the samples were compiled with those of nearly 2,900 Swedish prostate cancer patients.
The result: Five single-letter mutations (or SNPs) were isolated among the patients’ “DNA alphabet” as having a significant bearing on prostate cancer progression in terms of affecting cell death, tumor growth, inflammation, androgen hormone levels, blood-vessel development and bone density.
Patients found to have at least four out of the five cited SNP mutations appeared to face a 50 percent higher risk for dying from their disease compared with those who carried two or fewer of the mutations.
William Phelps, program director of translational and preclinical cancer research at the American Cancer Society, said the push to develop more revealing diagnostic tools is driven by an acknowledgement that current treatment options can debilitate patients.
“If the treatments we had for prostate cancer were very tolerable or very safe you would probably treat everybody,” he explained. “But the treatments we have available today are less than ideal.”
“So certainly we can try to improve treatment,” Phelps noted. “But at the same time we can also try to improve ways to identify patients who are more likely to progress rapidly from those likely to be very slow going, so we can reserve treatment for only those instances when it’s really necessary.”
If there are markers that better define the men whose cancer is most likely to progress, “that would certainly prove very useful in the current climate,” he said.
Source: http://health.usnews.com/health-news/family-health/cancer/articles/2011/08/16/five-genes-may-be-tied-to-lethal-prostate-cancer
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Suicide-Bombing Bacteria Could Fight Infections
Last Updated on Tuesday, 16 August 2011 02:38 Written by admin Tuesday, 16 August 2011 02:38
Like any good military unit, infectious bacteria have access to numerous weapons and efficient communication systems. But like soldiers in the field, they’re also susceptible to suicide bombers. Researchers have used the tools of synthetic biology to create an Escherichia coli cell that can infiltrate foreign bacteria and explode, killing off the pathogens along with itself.
The project, says bioengineer Chueh Loo Poh of Nanyang Technological University in Singapore, was “inspired by nature,” particularly by quorum sensing, the ability of some bacteria to detect the number of microorganisms—either of their own species or others—in their environment. When pathogenic Pseudomonas aeruginosa sense other species impeding on their space and nutrients, they communicate with members of their own species using chemical signals and collectively start releasing a bacterial toxin called pyocin that kills off the competition. Together, these communication and defense capabilities allow P. aeruginosa to form tightly packed layers called biofilms, which can cause respiratory tract infections in humans and are particularly dangerous to cystic fibrosis patients.
Poh and chemical engineer Matthew Wook Chang, also at Nanyang Technological University, decided to turn P. aeruginosa‘s weapon system against itself, using E. coli as the carrier. The researchers tweaked the genes that allow P. aeruginosa to detect other members of its species and put this synthetic genetic code into E. coli‘s genome. They also gave E. coli a gene for making a modified pyocin that is toxic to P. aeruginosa. By linking the pyocin gene to the sensing genes, the researchers ensured that when the E. coli detected P. aeruginosa in the vicinity, it would fill itself with large amounts of pyocin and become a biological time bomb.
The researchers gave E. coli one last synthetic component: a “suicide gene” that is activated once the pyocin has had some time to build up, causing the cells to burst open and release their toxin. When Chang and Poh grew these synthetic E. coli in a dish with P. aeruginosa, the suicide bomber was able to kill 99% of the P. aeruginosa cells, the researchers report today in Molecular Systems Biology.
Justin Gallivan, a synthetic biologist at Emory University in Atlanta, says in an e-mail that the study “nicely illustrates” how synthetic bacteria can perform complex tasks. But he worries they may not be able to finish the job, because 1% of the infectious bacteria remained after the treatment—even when the researchers put four times as many E. coli as P. aeruginosa into the mix.
The system would also have to undergo a lot of work before it can be considered for use in humans—including, perhaps, replacing E. coli with another delivery system, says Richard Kitney, a synthetic biologist at Imperial College London. “Exposing people to E. coli is not a good thing,” Kitney says, as the bacteria are toxic outside the gut. He adds that the team would also have to show that pyocin is effective at killing P. aeruginosa that have already formed a biofilm.
For their part, Chang and Poh say that they plan to test the suicidal bacteria in mice infected with P. aeruginosa. It’s not clear, they say, whether pyocin is harmful to mammals, although some other natural bacterial toxins are currently approved for use as food preservatives. They also hope to tweak the synthetic system so that it can sense and respond to signaling molecules released by other species of pathogenic bacteria, such as those responsible for cholera.
Source: http://news.sciencemag.org/sciencenow/2011/08/suicide-bombing-bacteria-could-f.html
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MS genetic discovery casts doubt on vein theory
Last Updated on Thursday, 11 August 2011 01:01 Written by admin Thursday, 11 August 2011 01:01
Scientists have discovered 29 new genetic variations linked to multiple sclerosis, with many involving genes relevant to the immune system – a finding that they say bolsters the theory that MS is a primarily an autoimmune disease.
The new study, published Wednesday in the journal Nature, is the largest-ever study on the genetics of multiple sclerosis. More than 250 scientists collaborated on the work, and close to 10,000 MS patients were involved.
Many of the gene variations the team discovered are involved in the development of the immune system’s T-cells, which are the immune cells that protect against infections. When T-cells become “confused,” they trigger autoimmune diseases that mistake healthy body tissues as foreign and attack them.
The study authors say the findings reaffirm the long-held assertion that MS is primarily an autoimmune disorder and that changes in the immune system set off the disease.
“Our research settles a longstanding debate on what happens first in the complex sequence of events that leads to disability in multiple sclerosis,” Dr. Alastair Compston, a University of Cambridge neurology professor who was one of the leaders of the study, said in a statement.
“It is now clear that multiple sclerosis is primarily an immunological disease. This has important implications for future treatment strategies.”
The findings also cast doubt on the recent theory proposed by Italian vascular surgeon Dr. Paolo Zamboni that MS is related to blocked neck veins.
For this new study, researchers in Britain, Canada and a dozen other countries performed genome-wide scans on the DNA of 9,772 people with MS. They looked for genetic anomalies that didn’t appear in the DNA of 17,376 healthy people without MS.
They discovered the MS patients had 29 genetic variations that other patients didn’t have. They also confirmed 23 other genetic variations that had already been associated with MS. As well, the team identified five more associations that might be significant and that require further study.
One third of the genes identified have previously been implicated in playing a role in other autoimmune diseases such as Crohn’s Disease and Type 1 diabetes, indicating that the same processes occur in more than one type of autoimmune disease.
The findings cast doubt on the theory put forward by Dr. Zamboni. He suggests that blocked neck and chest veins stop blood from draining properly from the brain – a condition he calls CCSVI – which leads the blood to deposit iron in the brain. It’s the iron deposits that lead to the brain changes that mark MS, he contends.
To treat this, he proposes a vascular procedure to open blocked and twisted neck veins. Hundreds of Canadian patients have flown to overseas clinics for the so-called “libertion treatment,” spending upwards of $20,000 or more.
They’ve returned with various results. Some have reported the procedure helped relieve their fatigue; others said it allowed them to walk again, while still others say it offered no relief at all.
At least two patients have died after having the procedure, though it’s unclear what role it played in the deaths.
Zamboni has conducted studies that suggest that the majority of MS patients have CCSVI while few healthy patients so. But further studies have been unable to replicate his findings.
One study published this week in the Archives of Neurology found no significant difference in venous abnormalities between MS patients and healthy controls. But CCSVI proponents argue the studies were performed improperly.
The vein theory has not been embraced by many neurologists who specialize in MS. Many contend that patients have a genetic predisposition for MS and that one or more environmental factors trigger the condition.
Multiple sclerosis is marked by damage to nerve fibres in the brain and spinal cord and their protective insulation, called the myelin sheath. When the myelin is destroyed, it causes patients to struggle with everyday activities such as walking, feeling, thinking and controlling the bowel and bladder.
Even among those who believe MS is an autoimmune disease, it’s been unclear what sparks the immune changes. Previous research has suggested a vitamin D deficiency might be the trigger. Populations in northern hemispheres have higher rates of MS than populations with more year-round sunlight.
In this latest genetics study, researchers did identify two genetic variations that are involved in the metabolism of vitamin D.
Source: http://ottawa.ctv.ca/servlet/an/local/CTVNews/20110811/ms-gene-study-immune-system-110811/20110811/?hub=OttawaHome
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New tests screen for gum disease, oral cancer
Last Updated on Wednesday, 10 August 2011 11:10 Written by admin Wednesday, 10 August 2011 11:10
Future dental visits may involve more than a simple cleaning. Oral DNA testing may also help screen patients for gum disease or oral cancer.
Dr. Jessica Lawson of Urbandale Family Dentistry began offering the tests last spring. Two tests involve gum disease and a third for oral human papillomavirus, or HPV, assesses risks for oral cancer.
Researchers anticipate salivary testing may become the diagnostic tool of the future, in some instances even replacing blood work, said Lawson, one of the few dentists in the metro area offering the tests.
“It really supports what we’re doing with our patients. They know we have their best interest at heart. We’re looking to prevent, rather than treat and fix,” she said.
According to the manufacturer, OralDNA Labs, the periodontal tests have been available for nearly two years and the HPV test since January 2010.
Lawson’s staff educates all patients about testing, especially existing gum disease patients who don’t respond to frequent cleanings. Tests cost $150 each.
So far, 24 of her patients have undergone one of the gum disease tests. A handful had the HPV test, which can be a more difficult discussion since transmission is associated with sexual contact.
Testing is simple. Patients swish saline in their mouths for 30 seconds and spit it into a collection tube. The HPV test requires that patients gargle since the virus typically lives in the soft palate, esophagus and throat — similar to tissue in the cervix, where HPV is also present. Results are returned in seven to 10 days.
An estimated 50 to 60 percent of Americans have gum disease — some undiagnosed. Those patients usually have cleanings every three months. One test shows a patient’s genetic susceptibility to gum disease. It’s also a good test for new patients, Lawson said.
The other periodontal test shows what concentration of bacteria are present in the saliva and what antibiotic best treats it. The manufacturer recommends re-testing in six weeks.
Patient Amanda Rynning, 31, took that test a month ago to pinpoint the cause of tender, bleeding gums during flossing.
“I kind of questioned it a bit, but the more she talked about it and explained things, the more I felt comfortable taking the test,” she said.
The results allowed Lawson to customize Rynning’s antibiotic treatment and schedule a follow-up in a few weeks.
The test is also recommended for pregnant women to identify the presence of a specific oral bacteria associated with a higher rate of pre-term, low birth weight babies.
The HPV test targets two strains associated with squamous cell carcinoma of the head and neck, which affects 40,000 Americans every year.
As sexual activity is beginning at younger ages, the virus has become a hot topic, Lawson said.
“The prototype has changed for oral cancer. It used to be middle-aged to older men who were heavy tobacco users, abused alcohol and had other risk factors. Eighteen to 40-year-olds are now the high risk population for oral cancer due to increased sexual activity and skin-to-skin or mucous membrane transmission.”
Because there is no evidence Gardisil, an HPV vaccine, will protect against oral cancer, dentists may recommend exams every three months if needed. Lawson also can monitor with a VELscope, a fluorescent light that reflects light back at different wavelengths if tissue is damaged.
Caught early, the prognosis for oral cancer is good, Lawson said, adding that actor Michael Douglas was treated for the same condition. Initial symptoms include:
Earaches
Sore throat
Changes in voice box
Swollen, hard lymph nodes.
“We’re hoping with this test we’re monitoring things so at the first sign of symptoms we get them referred to the appropriate physicians,” she said.
Source: http://www.desmoinesregister.com/article/20110810/LIFE/308100026/-1/GALLERY_ARRAY/New-tests-screen-gum-disease-oral-cancer
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Genetic mutations cause schizophrenia
Last Updated on Monday, 8 August 2011 11:28 Written by admin Monday, 8 August 2011 11:28
More than 50 per cent of sporadic cases of schizophrenia are caused by new, or “de novo,” protein-altering mutations-genetic errors that are present in patients but not in their parents, a new research has shown.
A group led by Maria Karayiorgou, MD, and Joseph A. Gogos, MD, PhD, examined the genomes of patients with schizophrenia and their families, as well as healthy control groups. All were from the genetically isolated, European-descent Afrikaner population of South Africa.
They found 40 mutations, all from different genes and most of them protein-altering.
The results point the way to finding more, perhaps even hundreds, of mutations that contribute to the genetics of schizophrenia-a necessary step toward understanding how the disease develops, the researchers said.
“Identification of these damaging de novo mutations has fundamentally transformed our understanding of the genetic basis of schizophrenia,” says Bin Xu, PhD, assistant professor of clinical neurobiology at Columbia University Medical Center and first author of the study.
“The fact that the mutations are all from different genes,” says Karayiorgou, “is particularly fascinating. It suggests that many more mutations than we suspected may contribute to schizophrenia. This is probably because of the complexity of the neural circuits that are affected by the disease; many genes are needed for their development and function,” she added.
The study was recently published online in Nature Genetics.
Source: http://timesofindia.indiatimes.com/life-style/health-fitness/health/Genetic-mutations-cause-schizophrenia/articleshow/9527010.cms
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Urine Test May Help Detect, Stratify Prostate Cancer
Last Updated on Thursday, 4 August 2011 11:07 Written by admin Thursday, 4 August 2011 11:07
In men with elevated prostate specific antigen (PSA), an investigational urine test can detect and stratify prostate cancer, researchers reported.
The test is based on the detection of a gene fusion that is specific to prostate cancer, combined with another marker, according to Arul Chinnaiyan, MD, PhD, of the University of Michigan Medical School in Ann Arbor, and colleagues.
Stratifying patients by the combined marker identified groups with markedly different risks of cancer, high-grade cancer, and clinically significant cancer on biopsy, Chinnaiyan and colleagues reported online in Science Translational Medicine.
The noninvasive test could allow some men with elevated PSA to avoid a needle biopsy, the researchers noted.
“Many more men have elevated PSA than actually have cancer but it can be difficult to determine this without biopsy,” Chinnaiyan said in a statement. “The hope is that this test could be an intermediate step before getting a biopsy.”
The fusion at the heart of the test involves the genes transmembrane protease, serine 2 (TMPRSS2), and v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG).
The fusion appears in about half of all prostate cancers, Chinnaiyan and colleagues noted, but when it appears it is almost 100% specific for malignancy.
In a series of experiments, the researchers showed that the fusion gene was associated with indicators of clinically significant cancer at biopsy and prostatectomy.
The indicators included tumor size, high Gleason score at prostatectomy, and upgrading of Gleason grade at prostatectomy, they reported.
But because the fusion gene is not universally present, the researchers created a model that combined it and the prostate cancer antigen 3 (PCA3) gene.
In 1,065 men who underwent biopsy, the researchers used the model to stratify men into three groups – lowest, intermediate, and highest levels of the combined genes.
They found that the groups had distinctly different patterns of risk. Specifically:
- 363, 346, and 356 men were in the lowest, intermediate, and highest score groups, respectively – or 34%, 32% and 33%.
- Biopsy resulted in a cancer diagnosis in 21%, 43%, and 69% of men in the lowest, intermediate, and highest groups, respectively. The difference between the low and high groups was significant at P<0.001.
- 7%, 20%, and 40% of men in the lowest, intermediate, and highest groups were diagnosed with cancer that had a Gleason score of greater than 6. The difference between the low and high groups was again significant at P<0.001.
- Of the 966 men with enough information to determine the Epstein criteria for significance of cancer on biopsy, 15%, 33%, and 61% of men in the three groups, respectively, had Epstein-criteria-defined significant cancer.
The researchers cautioned that the test remains investigational. As well, they noted, most of the men studied so far have been Caucasian, so that additional study is needed to see if the results apply more broadly.
Source: http://www.medpagetoday.com/HematologyOncology/ProstateCancer/27884?pfc=101&spc=224
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Proteus Syndrom Gene Variant Identified
Last Updated on Thursday, 28 July 2011 11:34 Written by admin Thursday, 28 July 2011 11:34
Researchers have discovered the gene mutation that leads to Proteus syndrome, a condition that causes different parts of the body to grow faster and larger than others, HealthDay reports.
With only about 500 cases known in the developed world, Proteus syndrome is rare. The condition is marked by a partial enlargement of the hands or feet, an enlarged head and overgrowth of one side of the face, body or limbs. It is thought to be the cause of the disabilities of 19th century Englishman Joseph Merrick, popularly known as the “Elephant Man.”
According to HealthDay, Proteus syndrome is a mosaic disorder, one in which some cells in the body have the genetic mutation and some don’t. Working on identifying the specific gene variant since 1996, researchers at the U.S. National Human Genome Research Institute were finally able to compare tissue samples from affected areas of the body to unaffected areas in 29 Proteus syndrome patients. They were able to identify the same mutation in 26 patients.
The mutation occurred in the AKT1 gene, they said. HealthDay explains the mutation as “a single ‘misspelling’ in the billions of letters that make up the human genome.”
HealthDay noted that the gene mutation in Proteus syndrome creates an oncogene, which drives the uncontrolled cell division. Oncogenes are usually associated with cancer, the website reported.
Researchers hope that finding the gene will be able to lead to better treatment for people with Proteus syndrome.
“It may become possible to treat those with Proteus syndrome with a drug originally developed for cancer,” said the study’s senior author Leslie Biesecker. “This allows us to leapfrog a number of steps. But, Proteus syndrome is not an overgrowth syndrome so we would have to adapt cancer treatments.”
Source: http://www.thirdage.com/news/proteus-syndrom-gene-variant-identified_07-28-2011
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Studies Show Natural Protein May Provide Benefits Against Stroke up to 12 Hours After Onset
Last Updated on Wednesday, 27 July 2011 04:38 Written by admin Wednesday, 27 July 2011 04:38
Scientists suggest that treating stoke patients with an endogenous immunomodulatory neuroprotectant protein, ?B-crystallin (Cryab), could help limit brain damage even if first administered 12 hours after the onset of stroke. Studies by a Stanford University School of Medicine team in a mouse model of stroke found that administering Cryab to animals 12 hours after stroke induction led to significantly reduced stroke volume and lower levels of inflammatory cytokines associated with stroke pathology than untreated mice.
Conversely, animals in which the Cryab gene had been knocked out demonstrated increased lesion size and diminished neurologic function after stroke than wild-type mice. The research team, led by Gary K. Steinberg, M.D., director of Stanford’s Institute for Neuro-Innovation and Translational Neurosciences, reports its findings in PNAS in a paper titled “Systemic augmentation of ?B-crystallin provides therapeutic benefit twelve hours post-stroke onset via immune modulation.”
Tissue plasminogen activator (tPA) is currently the only FDA-approved treatment for stroke, and must be given within 4.5 hours of stroke onset to be effective, the researchers note. tPA acts through the conversion of plasminogen into active plasmin, to cleave the blood clot, and exemplifies strategies that aim to alter the obstructive blood clot rather than actually protect the damaged brain.
Cryab, meanwhile, is a small heat shock protein (designated sHSP B5) that is constitutively expressed in the lens of the eye and muscle, and is induced in many types of brain injury. Previous studies have shown the protein has both anti-apoptotic and immunomodulatory properties; it is also the most abundant induced transcript in multiple sclerosis lesions and is highly expressed in areas of inflammation, the authors add.
Previous studies by a group led by co-author Lawrence Steinman, M.D., George A. Zimmermann professor of neurology and neurological sciences and pediatrics at Stanford, had found that Cryab reduces the severity of brain damage caused by multiple sclerosis, and that the protein can also limit the damage caused by reduced blood supply to heart tissue and to the retina. These findings, coupled with other research suggesting that Cryab has neuroprotective properties, led Drs. Steinberg, Steinman, and colleagues to evaluate the effects of Cryab deficiency on cerebral ischemia.
They found that Cryab-knockout animals demonstrated significantly larger lesions two days after an induced cerebral artery occlusion than wild-type mice. This increased damage in the Cryab-deficient animals persisted at seven days, indicating that Cryab deficiency affects both the early and delayed phases of ischemic damage. The Cryab-knockout mice also scored significantly worse in terms of functional assessment.
Interestingly, granulocyte and macrophage populations, and the subpopulation of monocytes, were significantly higher in the Cryab-deficient mice at the two-day post-stroke stage, but not at seven days. The numbers of lymphoid cells, however, were significantly increased in the knockout animals at seven days. More specifically, there were increased numbers of granulocytes and activated macrophages in the Cryab-deficient mice than in the wild-type controls at two days. There were also marked increases in the numbers of T cells in the brains of Cryab knockouts than wild-type mice at seven days and, in particular, increased levels of IL-17-producing ??-TCR+ (??-T) cells. The overall data suggested that “a deficiency of Cryab might lead to a more vigorous inflammatory response to stroke,” the authors note.
Because some research has previously suggested that Cryab expression is upregulated in neurons and astrocytes after cerebral ischemia, the researchers moved on to analyze levels of Cryab in the plasma of wild-type mice before stroke, and at various time points after the induction of stroke. This showed that Cryab levels were significantly increased at the 12 hour time point, and decreased gradually over the next seven days.
When they analyzed the plasma concentrations of Cryab in human patients with ischemic stroke, they found increased levels of the protein in younger patients within four hours of stroke symptom onset, but surprisingly not in older patients. In younger patients only, lesion volume also correlated with plasma Cryab levels, “perhaps indicating that the body’s endogenous response to stroke is age dependent,” the team suggests.
To test the notion that increased plasma Cryab after stroke is beneficial, Cryab-knockout mice were given intraperitoneal injections of recombinant Cryab protein, starting one hour before stroke onset and continuing at 12 hours, 24 hours, and then daily for seven days in total. Lesion sizes in the Cryab-treated knockout mice were significantly smaller than those of the knockout animals that weren’t given exogenous Cryab. Evaluation of splenocytes from PBS-treated wild-type mice, Cryab-deficient animals, and Cryab-treated Cryab-knockout animals showed that those of PBS-treated knockouts produced more proinflammatory IL-2, IL-17, and TNF than both PBS-treated wild-type mice and Cryab-treated Cryab-deficient mice. The animals receiving exogenous Cryab also produced more anti-inflammatory IL-10. “These data indicate that restoration of plasma Cryab by systemic treatment modulates the peripheral inflammatory response and is sufficient to decrease the lesion sizes in Cryab?/? mice to the levels of wild-type mice after stroke,” the researchers note.
They progressed to evaluate whether Cryab therapy could benefit wild-type mice after stroke onset. When Cryab was administered one hour before and 12 hours after stroke onset, the lesion size at two days was not different between PBS- and Cryab-treated wild-type mice groups. In contrast, when it was administered 1 hour before, 12 hours and 24 hours after, and then daily for seven days, the lesion sizes were significantly reduced in the Cryab-treated group compared with the PBS-treated group. “Moreover, starting the initial treatment even 12 hours after the stroke onset—making the treatment highly relevant if translated into the clinic—conferred neuroprotection in the Cryab-treated group,” the team claims. Analysis of splenocytes cytokines seven days after stroke in wild-type mice again showed that the Cryab-treated animals produced less proinflammatory IL-2, IL-17, IFN-?, IL-12p40, and IL-6, and more anti-inflammatory IL-10, than the PBS-treated animals.
“Our findings describe a therapeutic role for Cryab in stroke, and emphasize how it functions as an endogenous neuroprotectant by modulating the immune system,” the authors conclude. “Its presence as an endogenous protectant can be exploited by administering it in larger quantities as a therapeutic agent. Its benefit seen with starting the treatment 12 hours after stroke would represent a significant improvement over tPA if translated to the clinic.”
Source: http://genengnews.com/gen-news-highlights/studies-show-natural-protein-may-provide-benefits-against-stroke-up-to-12-hours-after-onset/81245471/
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Smelly socks tested in Tanzania as way to prevent malaria
Last Updated on Thursday, 14 July 2011 11:49 Written by admin Thursday, 14 July 2011 11:49
In global public health, disease-fighting tools that are cheap, available and sustainable are the Holy Grail. It might be hard to top the one being tested in Tanzania as a way to prevent malaria: smelly socks.
Experiments in three villages where people get about 350 bites a year from malaria-infected mosquitoes are using dirty socks to lure the insects into traps, where they become contaminated with poisons and ultimately die.
Researchers hope that if the strategy works, it will eventually complement insecticide-treated bed nets as a low-tech way to prevent malaria, which kills nearly 900,000 people a year worldwide, most of them children.
“It’s a bold idea. Who would have thought there was a life-saving technology working in your laundry basket?” said Peter A. Singer, a physician who heads Grand Challenges Canada, a development agency of the Canadian government that is helping fund the research.
Previous lab studies have shown that smelly socks work well in attracting mosquitoes. Field experiments have shown that synthetic bait is more attractive than people, at least until the insects get close enough to realize there’s no blood waiting for them.
The new experiments, however, are the first head-to-head field tests of footwear vs. chemistry. The researchers hope the footwear wins.
“It is simply a cost issue and an expediency issue,” said Fredros O. Okumu, the Tanzanian entomologist leading the research. “Socks are more readily available, and you don’t have to mix any chemicals. It is the sort of thing that could be set up in a cottage factory.”
The traps are square boxes that look a little like commercial beehives. Some will contain the human-odor bait, which consists of simple chemicals (including lactic acid, ammonia and propionic acid) that are exuded by people, especially from the legs and feet. Some will contain socks worn for a day by adults. Others will contain cotton pads that schoolchildren will put inside their socks for a day and then deliver to researchers.
The researchers will compare the number of mosquitoes caught with each method.
Earlier work by Okumu and his colleagues at the Ifakara Health Institute in Tanzania showed that the chemical bait attracted four times as many mosquitoes as live people and that dirty socks worked just as well, at least in the lab. If the sock pads prove adequate, they will be the preferred bait.
The inside surfaces of some traps are coated with an organophosphate pesticide. Mosquitoes that land there will die within 24 hours. Other traps contain a fungus that infects the insects and kills them in five days — roughly half the time needed for the complicated cycle that enables a newly infected mosquito to transmit the malaria parasite to a person.
The bait-and-kill strategy is a new one in malaria prevention efforts.
Normally, attempts to prevent malaria by controlling mosquitoes, known as vector control, have aimed at driving the insects away from people or killing them once natural attraction has brought them into proximity.
Insecticide-treated bed nets, millions of which have been sold or given away in Africa in the past decade, have a long-acting repellant, permethrin. In many malaria-endemic areas, people spray the inside walls of dwellings with insecticide that kills mosquitoes when they land.
Bed nets have cut childhood deaths by about 20 percent in malaria-endemic areas. Modeling suggests that traps could reduce malaria transmission about as much as bed nets do in villages where half the households use them.
Despite its low-tech appearance, the strategy Okumu is testing is far more complicated, and potentially fraught with hazard, than it seems.
A key question is where to place traps. They need to be close enough to dwellings to attract mosquitoes, but not so close that they will increase people’s exposure to the disease-carrying insects. Okumu’s research suggests that the traps should be at least 100 feet from houses.
Another question is how many traps a village might need. Okumu has calculated the minimum number at 20 per 1,000 people, although in places where malaria transmission is especially intense and in certain village configurations, 130 traps per 1,000 people might be needed.
Despite these challenges, Singer said, projects such as these are what Grand Challenges Canada is looking to support. It is providing $388,000 for the research, and the Bill and Melinda Gates Foundation is providing a similar amount. The Gates Foundation gave Okumu $100,000 for preliminary studies, as well.
“We are inspired by people like Fredros,” Singer said. “We strongly believe that innovators in low-income countries are best situated to solve their own problems. He is an African researcher with an African innovation for an African problem.”
Okumu, who is a doctoral candidate at the London School of Hygiene and Tropical Medicine, said he is “working on the premise that this is a global problem — a global problem in a flat world.”
He said he doubted that there might be an application for his strategy — should it prove successful — in non-malarious places such as the United States. A pair of socks from a recent 10K run at the corner of a patio will only briefly divert mosquitoes. They’ll soon find the bare legs under the picnic table.
“Mosquitoes are still fairly clever animals,” he said. “What they are looking for is blood. They might be attracted to the socks, but they will not spend much time there.”
Source: http://www.washingtonpost.com/national/health-science/smelly-socks-tested-in-tanzania-as-way-to-prevent-malaria/2011/07/12/gIQAshifBI_story.html
Posted under Discoveries, Innovations and Patents, DNA Reasearch, Medicinal Chemistry, R & D, Reports, Research Projects | Comments Off
Scientists Discover Gonorrhea Resistant to Antibiotics
Last Updated on Tuesday, 12 July 2011 11:11 Written by admin Tuesday, 12 July 2011 11:11
(EndPlay Staff Reports) – A new untreatable strain of gonorrhea has been discovered in Japan and is causing concern in the United States.
Scientists reported that the strain, which is named H041, is resistant to all known forms of antibiotics. The researchers discussed the findings at a Monday meeting in Canada about three days after the CDC warned on July 8 that gonorrhea samples in the U.S. are also showing signs of drug resistance.
The concern is that the new strain of Neisseria gonorrhoeae is resistant to the cephalosporin family of antibiotics such as ceftriaxone, cefixime and cefpodoxime, which are widely used to treat the sexually transmitted disease in the United States. The CDC warned that this is a concern because it only leaves a few antibiotic options that are “simple, well-studied, and highly effective.”
The resistance to antibiotics, according to the CDC , was first documented in Asia before emerging in Hawaii and other western states then spreading elsewhere.
“This is a large public health problem and the era of untreatable gonorrhea may now have been initiated,” the team of researchers said at the Quebec City meeting of the International Society for Sexually Transmitted Disease Research, The Los Angeles Times reported.
The US Gonococcal Isolate Surveillance Project launched in 1986 has not discovered any U.S. cases in which treatment with cephalosporin antibiotics was a complete failure. The Times, though, reported there have been more cases that required unusually high doses of the antibiotic to cure them.
The majority of samples showing this trend were obtained from men having sex with men, the newspaper stated. The largest growth in cases noticed between 2000 and 2010 have been in Hawaii and California.
As a precaution, the CDC is suggesting dual treatment with another antibiotic such as azithromycin or doxycycline.
Gonorrhea, ABC News reported, is one of the most common STDs with about 700,000 new cases each year in the United States. It is spread through direct contact with the penis, vagina, mouth or anus and can also be transmitted from mother to baby during birth.
Only about half of infected women and less than five percent of infected men develop symptoms including a burning sensation and discharge. ABC News said it can spread to the skin, blood and other organs and cause pain, infertility and death if not treated.
Scientists are concerned that such a strain could spread quickly if new ways are not found to stop it. Dr. William Schaffner, chair of preventive medicine at Vanderbilt University Medical Center in Nashville, Tenn., told ABC News that this coincides with cutbacks in research as pharmaceutical companies invest less in the search for new antibiotics.
While the strain that did not respond at all to antibiotics was discovered in Kyoto, Japan, he warned, such bacteria “don’t need a passport” to spread.
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Who wants to live forever? Scientist sees aging cured
Last Updated on Tuesday, 5 July 2011 11:56 Written by admin Tuesday, 5 July 2011 11:56
(Reuters) – If Aubrey de Grey’s predictions are right, the first person who will live to see their 150th birthday has already been born. And the first person to live for 1,000 years could be less than 20 years younger.
A biomedical gerontologist and chief scientist of a foundation dedicated to longevity research, de Grey reckons that within his own lifetime doctors could have all the tools they need to “cure” aging — banishing diseases that come with it and extending life indefinitely.
“I’d say we have a 50/50 chance of bringing aging under what I’d call a decisive level of medical control within the next 25 years or so,” de Grey said in an interview before delivering a lecture at Britain’s Royal Institution academy of science.
“And what I mean by decisive is the same sort of medical control that we have over most infectious diseases today.”
De Grey sees a time when people will go to their doctors for regular “maintenance,” which by then will include gene therapies, stem cell therapies, immune stimulation and a range of other advanced medical techniques to keep them in good shape.
De Grey lives near Cambridge University where he won his doctorate in 2000 and is chief scientific officer of the non-profit California-based SENS (Strategies for Engineered Negligible Senescence) Foundation, which he co-founded in 2009.
He describes aging as the lifelong accumulation of various types of molecular and cellular damage throughout the body.
“The idea is to engage in what you might call preventative geriatrics, where you go in to periodically repair that molecular and cellular damage before it gets to the level of abundance that is pathogenic,” he explained.
CHALLENGE
Exactly how far and how fast life expectancy will increase in the future is a subject of some debate, but the trend is clear. An average of three months is being added to life expectancy every year at the moment and experts estimate there could be a million centenarians across the world by 2030.
To date, the world’s longest-living person on record lived to 122 and in Japan alone there were more than 44,000 centenarians in 2010.
Some researchers say, however, that the trend toward longer lifespan may falter due to an epidemic of obesity now spilling over from rich nations into the developing world.
De Grey’s ideas may seem far-fetched, but $20,000 offered in 2005 by the Massachusetts Institute of Technology (MIT) Technology Review journal for any molecular biologist who showed that de Grey’s SENS theory was “so wrong that it was unworthy of learned debate” was never won.
The judges on that panel were prompted into action by an angry put-down of de Grey from a group of nine leading scientists who dismissed his work as “pseudo science.”
They concluded that this label was not fair, arguing instead that SENS “exists in a middle ground of yet-to-be-tested ideas that some people may find intriguing but which others are free to doubt.”
CELL THERAPY
For some, the prospect of living for hundreds of years is not particularly attractive, either, as it conjures up an image of generations of sick, weak old people and societies increasingly less able to cope.
But de Grey says that’s not what he’s working for. Keeping the killer diseases of old age at bay is the primary focus.
“This is absolutely not a matter of keeping people alive in a bad state of health,” he told Reuters. “This is about preventing people from getting sick as a result of old age. The particular therapies that we are working on will only deliver long life as a side effect of delivering better health.”
De Grey divides the damage caused by aging into seven main categories for which repair techniques need to be developed if his prediction for continual maintenance is to come true.
He notes that while for some categories, the science is still in its earliest stages, there are others where it’s already almost there.
“Stem cell therapy is a big part of this. It’s designed to reverse one type of damage, namely the loss of cells when cells die and are not automatically replaced, and it’s already in clinical trials (in humans),” he said.
Stem cell therapies are currently being trialed in people with spinal cord injuries, and de Grey and others say they may one day be used to find ways to repair disease-damaged brains and hearts.
NO AGE LIMIT
Cardiovascular diseases are the world’s biggest age-related killers and de Grey says there is a long way to go on these though researchers have figured out the path to follow.
Heart diseases that cause heart failure, heart attacks and strokes are brought about by the accumulation of certain types of what de Grey calls “molecular garbage” — byproducts of the body’s metabolic processes — which our bodies are not able to break down or excrete.
“The garbage accumulates inside the cell, and eventually it gets in the way of the cell’s workings,” he said.
De Grey is working with colleagues in the United States to identify enzymes in other species that can break down the garbage and clean out the cells — and the aim then is to devise genetic therapies to give this capability to humans.
“If we could do that in the case of certain modified forms of cholesterol which accumulate in cells of the artery wall, then we simply would not get cardiovascular disease,” he said.
De Grey is reluctant to make firm predictions about how long people will be able to live in future, but he does say that with each major advance in longevity, scientists will buy more time to make yet more scientific progress.
In his view, this means that the first person who will live to 1,000 is likely to be born less than 20 years after the first person to reach 150.
“I call it longevity escape velocity — where we have a sufficiently comprehensive panel of therapies to enable us to push back the ill health of old age faster than time is passing. And that way, we buy ourselves enough time to develop more therapies further as time goes on,” he said.
“What we can actually predict in terms of how long people will live is absolutely nothing, because it will be determined by the risk of death from other causes like accidents,” he said.
“But there really shouldn’t be any limit imposed by how long ago you were born. The whole point of maintenance is that it works indefinitely.”
Source: http://www.reuters.com/article/2011/07/04/us-ageing-cure-idUSTRE7632ID20110704
Posted under Cell Analysis, Discoveries, Innovations and Patents, DNA Reasearch, Medicinal Chemistry, Research Projects, Stem Cell Research | Comments Off
Hemophilia Is Target of Therapy on Genome
Last Updated on Monday, 27 June 2011 11:13 Written by admin Monday, 27 June 2011 11:13
Researchers using a new technique for editing the genome of living cells have shown that they can cure hemophilia in mice, at least in principle, with a couple of injections that carry out the “cut” and “paste” operations needed to insert a corrective gene.
This is the first time this genome-editing technique has succeeded in a live animal. Along with other applications, like two AIDS treatments in preliminary stages, the new technique could be the decisive improvement that gives credibility to the long-struggling field of gene therapy.
“This may well revolutionize the field, but it won’t do so overnight,” said Dr. Katherine A. High of the Children’s Hospital of Philadelphia, the research team leader. “Any novel kind of therapeutic takes time to develop.”
The essence of the technique is the molecular scissors custom-designed to cut the genome at a unique site. This allows the corrective gene to be inserted at the right place in a chromosome.
In previous forms of gene therapy, corrective genes have been inserted into the genome at random sites, for lack of the ability to control where they go. This approach means they are not under their natural control systems and, worse, may be inserted in the middle of some other gene that they disrupt.
“There’s a huge interest in this,” said Dr. Mark A. Kay, a gene therapist at the Stanford University School of Medicine. The genome editing approach “could be game-changing in some applications,” he said.
The technique depends on natural agents called zinc finger proteins whose role is to bind to specific sites on the genome and control adjacent genes. By mixing and matching the DNA of different natural zinc finger proteins, researchers can create artificial zinc fingers for any chosen target site on the genome.
In their genome-editing role, the zinc fingers are attached to a DNA-cutting enzyme derived from a bacterium. When a pair of zinc finger proteins line up on opposing strands of DNA, their DNA cutters face each other and scissor the DNA apart.
The zinc finger technique has been developed by Sangamo BioSciences and by academic researchers who belong to the Zinc Finger Consortium. “We are fairly inundated with requests,” said Philip D. Gregory, Sangamo’s chief scientific officer.
Sangamo designed the zinc finger pairs for Dr. High’s hemophilia project. But the fingers are designed to cut the human Factor 9 gene, not the mouse version, which has a different sequence of DNA units. So Dr. High genetically engineered a strain of hemophiliac mice that carry a mutated version of the human Factor 9 gene in place of their own.
After the cut-and-paste operation, the mice possessed a good working copy of human Factor 9, producing enough to make their blood clot much faster, and well enough to prevent hemophilia, Dr. High and her colleagues report in the journal Nature. To show that the new gene was stably incorporated into cells, they then cut out part of the mice’s livers. The liver regenerated from existing cells, retaining their ability to produce good copies of Factor 9.
Dr. High said it was too soon to try the technique in people, given that an adequate treatment for hemophilia already exists. She plans to test it next in dogs, which are a standard model for new hemophilia treatments. One of the possible problems with the technique is that the zinc fingers sometimes cut at sites other than the intended target site.
Dr. High said that besides hemophilia, the zinc finger technique could address many other liver-based genetic diseases.
Zinc fingers are being used in a different way in a treatment for AIDS, at present in early clinical trials. The fingers are used to disrupt a gene called CCR5, which makes the receptor used by the AIDS virus to gain access to cells. People with no CCR5 receptor are naturally immune to AIDS.
The hope is that patients will acquire the same immunity after their T cells are treated with zinc fingers and returned to the body.
“We are very hopeful that zinc finger technologies will have a spectacular impact on gene therapy and genetic medicine in general,” Dr. Gregory said.
Source: http://www.nytimes.com/2011/06/27/us/27therapy.html
Posted under Cell Analysis, Discoveries, Innovations and Patents, DNA Reasearch, HIV Research, North America, Research Projects, USA and Canada | Comments Off
Genome Maps Solve Medical Mystery For Calif. Twins
Last Updated on Thursday, 16 June 2011 10:51 Written by admin Thursday, 16 June 2011 10:51
Ever since scientists began to sequence the entire genomes of individuals —beginning with those of Nobelist James Watson and scientific entrepreneur J. Craig Venter in 2007 — skeptics have wondered just how useful this elegant and expensive trick would become.
A pair of 14-year-old twins, Alexis and Noah Beery, now provide a compelling answer, even if it’s not yet clear how generalizable their case is to others with genetic disorders.
Whole-genome sequencing has enabled doctors to provide the Beery twins with a simple, highly effective treatment for a rare condition called DRD, or dopa-responsive dystonia. The tale of their cure appears in this week’s issue of the journal Science Translational Medicine.
The twins were diagnosed with cerebral palsy at age two. But their mother, Retta Beery, didn’t think that was correct. For one thing, Alexis’s contorted posture and jerky movements always seemed to be better in the morning and increased as the day went on.
Turns out DRD is known for these diurnal variations, as Retta found out through dogged research. That led to a diagnosis of DRD when the twins were five. Since DRD was thought to be a deficiency of the neurotransmitter dopamine, low doses of a drug called L-dopa (also used for Parkinson’s disease) rather miraculously made the twins’ “cerebral palsy” go away within days.
But other symptoms persisted and worsened. At age 14, Noah had hand tremors, awkwardness and attentional problems. More alarmingly, Alexis had breathing problems due to spasms in her larynx. But when doctors probed for an explanation of these symptoms, the twins tested negative for known mutations of two genes known to be involved in DRD.
As it happens, the twins’ father, Joe Beery, works for a California biotech company that makes DNA sequencing machines. So the parents wondered if a deep dive into their twins’ DNA might explain the nature of their particular genetic defect.
Scientists at Baylor College of Medicine, a pioneer in whole-genome sequencing of individuals, thought it was worth a go. They sequenced the genomes of the twins, their older brother, their parents and their grandparents.
Comparing the results, the researchers found that the twins both inherited a gene variant from each parent that, together, led them to have low levels of not just dopamine but two other neurotransmitters, serotonin and noradrenalin.
The twins’ neurologist, Jennifer Friedman of Rady Children’s Hospital in San Diego, suggested giving the teenagers a supplement called 5-HTP that’s a precursor for serotonin.
Together with the L-dopa, the additional supplement has improved Alexis’s breathing point to the point that she’s now running track again. Noah’s handwriting and athletic performance have improved, and he’s better able to focus in school.
And there’s an intriguing bonus. Scientists think the gene mutation that the Beery twins inherited from their mother may be responsible for a pattern of a neuromuscular disease called fibromyalgia in her family. Fibromyalgia sometimes responds to anti-depressants called SSRIs that raise serotonin levels.
If that hypothesis pans out, it would suggest that rare genetic disorders such as DRD are just the most dramatic manifestation – in people who inherit a double dose of certain gene variants – of much more common disorders such as fibromyalgia among people who have a single copy of the mutation.
Study authors say the Beerys’ case shows how genomics will ultimately revolutionize medicine by making diagnosis more precise and pointing toward life-changing treatments. Other cases are beginning to pop up, such as a Wisconsin boy whose rare disease was diagnosed by whole-genome sequencing and subsequently treated with a bone marrow transplant. (His story appeared in a Pulitzer Prize-winning series by the Milwaukee Journal-Sentinel.)
Cost is still a big obstacle. At the time the Beery family’s genomes were sequenced, it cost around $100,000 per person. Dr. Richard Gibbs of Baylor says now, less than two years later, it would cost about half as much – less than $10,000 for the actual sequencing, plus the cost of computer processing of the results and validation.
The skeptics also point out that not all genetic insights from sequencing will lead to such cheap, simple and effective treatments as the Beery twins got.
Source: http://www.npr.org/blogs/health/2011/06/16/137204964/genome-maps-solve-medical-mystery-for-calif-twins
Posted under Cell Analysis, Discoveries, Innovations and Patents, DNA Reasearch, Genetics & Pharmacogenetics, Medicinal Chemistry, North America, Research Projects, USA and Canada | Comments Off
Playing God; Is Genetic Testing The Answer To A More Pure Species?
Last Updated on Monday, 13 June 2011 04:09 Written by admin Monday, 13 June 2011 04:09
Some parents don’t want to know the sex of their upcoming child. Others do. DNA profiling has been a hot topic amongst scientists for years and this week the topic heats up even more as a few reports published last December are now appearing on the scientific grid months later. Included in the studies is news that doctors could essentially reconstruct a baby’s genetic makeup by recovering fragments of fetal DNA from the mother’s bloodstream and determine medical conditions like Down syndrome, but also things like eye color and height and even the risk for developing depression or Alzheimer’s disease and other ailments, leaving less to fate than ever before.
Marcy Darnovsky of the Center for Genetics and Society in Berkeley, California explains:
“This really changes the experience of what it will be like to be pregnant and have a child. I keep coming up with the word, game-changer.”
Jaime King, an associate professor at the University at California Hastings College of Law in San Francisco made the following comments:
“That’s a very big burden to place on would-be parents. At the moment these things happen, it’s just you there by yourself. Some people might like that level of control, but others would be happier to leave things up to chance a little more.”
The DNA of a fetus has long been recoverable through medical procedures, with a small risk of miscarriage. But a blood test would be free of that risk, which should make many more women interested in it and doctors willing to test for a wider range of conditions, some experts say. And the results could come early enough to allow for an abortion before the pregnancy is even obvious. There lies the controversy and a barrage of moral and political fire.
Dr. Brian Skotko, a board member of the National Down Syndrome Society comments:
“If no limitations are put on, you can have a couple get a prenatal genetic test in the future saying their fetus has … a 60% chance of having breast cancer at the age of 60 and a 30% chance of being gay. The ultimate question for society is what forms of human variation are valuable?”
Should a woman be allowed to get an abortion for any reason, even a trivial one like test results about height or eye color? Some state governments have passed laws outlawing abortions on the basis of sex, she said. But it’s not clear whether those are constitutional, and a woman might simply not reveal her true reasons for wanting the abortion, King said.
Skotko points out that people use their own personal perspective in deciding what they want for their children. Some couples who are deaf from a genetic condition already use current technology to avoid having children with normal hearing.
“It’s their lens by which they view the world, and they want a child who views the world through that same lens.”
A human embryo contains 46 chromosomes organized into 23 pairs: 22 pairs of non-sex chromosomes, called autosomes, and one pair of sex chromosomes (XX in a female and XY in a male). One chromosome in each pair is inherited from the mother and one from the father.
Located along these chromosomes are approximately 25,000 genes that carry instructions for making proteins. Through the proteins they encode, your genes determine how your body develops and functions.
Source:http://www.medicalnewstoday.com/articles/228350.php
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James Thomson’s Cellular Dynamics Launches iCell Cardiomyocytes Commercially for Drug Candidate Toxicity Screening
Last Updated on Wednesday, 5 May 2010 11:52 Written by Editor Wednesday, 5 May 2010 11:52
The University of Wisconsin’s James Thomson, whose vision was behind the founding of Cellular Dynamics, has from the initial creation of Induced Pluripotent Stem Cells felt that their use in the testing of new drugs would mark their greatest contribution, at least initially.Thursday the company announced the commercial launch of iCell Cardiomyocytes for use in testing of new drug candidates by the pharmaceutical industry. These human heart cells are designed to aid drug discovery and improve the predictability of drug compound efficacy and toxicity screens, weeding out ineffective and potentially toxic compounds early in the pharmaceutical pipeline process before significant time and resources have been invested.
iCell Cardiomyocytes are the first product developed by anyone from iPS cells and were discovered by CDI senior research fellow Junying Yu, Ph.D., then a postdoctoral research associate in the University of Wisconsin-Madison laboratory of James Thomson. Yu’s discovery followed a similar and almost simultaneous discovery by Shinya Yamanaka at Kyoto University.
Derived from induced pluripotent stem (iPS) cells, iCell Cardiomyocytes spontaneously beat in vitro and exhibit the electrophysiological and biochemical properties of normal human heart cells. Thus, both logically and according to Cellular Dynamics, iCell Cardiomyocytes provide significant advances over non-human cell models, which may exhibit a different response than human tissue. The same advantage is suggested to hold over tumor-derived cell models, which are genetically different than normal cells; and cadaveric cells, which exhibit batch-to-batch variability, de-differentiate under in vitro conditions, and exhibit non-cardiomyocyte behavior.
iCell Cardiomyocytes are produced in-house by Cellular Dynamics from a master cell bank of iPS cells expanded from a single clonal population reprogrammed from fully mature human cells using Dr. Thomson’s patented technology. Cellular Dynamics has reportedly developed a proprietary process to industrialize iCell Cardiomyocytes production so that the cardiomyocytes are manufactured at the high quantity, quality and purity required by pharmaceutical companies. The company has successfully engaged in pre-launch validation testing with several pharmaceutical customers.
James Thomson, chief scientific officer, had the following to say about the iCell launch: “Rapid application of stem cell technology has been a goal both of my laboratory at the University of Wisconsin and Cellular Dynamics. Utilizing human iPS cells for new drug toxicity testing should improve the drug discovery process in a timeframe that has an effect on human healthcare now, not 10 years from now. Ultimately applications of stem cell technology in drug discovery will provide great utility and enable movement toward a long-term goal of cellular-based therapeutics and personalized medicine.”
Adapted from the Cellular Dynamics announcement.
Source: stemcelldigest.net
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Tepnel Expands Genetic Services Portfolio with Addition of Illumina iScan Rapid Reader
Last Updated on Friday, 24 October 2008 10:36 Written by admin Friday, 24 October 2008 10:36
MANCHESTER, United Kingdom & STAMFORD, Conn.–Tepnel Life Sciences PLC (AIM:
TED) today announced that it has expanded its molecular genetic services
offering through the addition of Illumina’s iScan System, a next-generation
scanner that provides researchers conducting genetic variation studies with
significantly greater throughput and application diversity. This
announcement marks the first anniversary of Tepnel’s new pharmaceutical
services facility and makes Tepnel the first commercial provider of iScan
services within the UK.
Combined with Tepnel’s established range of upstream and downstream genetic
capabilities, the Company now offers a full suite of complementary services
from DNA extraction through to Bioinformatics. Illumina’s iScan platform
supports both human and non-human applications and is capable of generating
up to 225 million genotypes per day.
Tepnel also has a variety of other platforms and techniques for SNP-based
investigations for both human and non-human research and clinical
applications. This breadth of service enables Tepnel to provide a complete
solution from DNA extraction through to SNP genotyping and DNA sequencing,
all undertaken in accordance with Good Laboratory Practice (GLP).
“Tepnel can offer customers a broad portfolio of innovative genetic analysis
assays some of which are supported on our new high-throughput iScan reader,”
said David Scott, General Manager of Tepnel’s Livingston facility. “This new
addition to our service opens up the possibility to our customers of whole
genome association, focused content analysis, copy number variation analysis
and, epigenetics on both human and non-human samples, all within a
regulatory compliant environment.”
“Accelerating and expanding our molecular genetic services at this rapid
pace reflects our commitment to the long-term strategy of building Tepnel’s
market presence in the fast-growing sectors of
pharmacogenomics/pharmacogenetics and genetic disease disposition testing,”
said Allan Brown, Managing Director, Tepnel Research Products & Services.
About Tepnel Life Sciences plc
Tepnel Life Sciences (AIM:TED) is a UK-based international life sciences
products and services Group with two divisions, Molecular Diagnostics and
Research Products & Services. The Company has laboratories, manufacturing
and operations in the USA, UK and France with over 200 employees. Tepnel
provides test kits, reagents and services to two highly synergistic markets,
these being Molecular Diagnostics and Biomedical Research. The Company’s
strategy has been to identify high growth niche opportunities within these
multi-billion pound markets. Tepnel focuses on these niche operations with
internally developed products, patents, expertise and know-how as well as
strategic acquisitions, to develop a leadership position within these
defined market segments. For more information please visit www.tepnel.com.
Posted under BioInformatics, Clinical Trials, DNA Reasearch, Europe, Genetics & Pharmacogenetics, New Products, Press Releases | Comments Off
BioServe Introduces Customizable DNA Panels for Genetic Research
Last Updated on Thursday, 11 September 2008 03:05 Written by admin Thursday, 11 September 2008 03:05
BELTSVILLE, MD — September 11, 2008 — BioServe today announced a more affordable pricing plan for its vast bank of DNA with comprehensive, de-identified, covariate data that includes age, gender, diet, body mass index (BMI), and race. In addition, each sample has data on the complete diagnostic and treatment history of the donor. BioServe’s DNA represents a wide range of disease states including cancers (breast, prostate, lung, colon, others), diabetes, heart disease, hypertension, arthritis, obesity, as well as some rarer diseases. The repository also includes over 14,000 control subjects that are free of major illnesses. DNA is available in quantities from a few nanograms to hundreds of micrograms per subject to suit customer needs. Customized DNA panels and case-control studies can be designed based upon the investigators’ needs, taking into consideration the specific data points available for each individual DNA sample. Another useful function of these DNAs is for investigators to utilize them as second group of samples to validate data generated from their studies.
“We are making high-quality DNA available at price points that are affordable to any research laboratory during these tough budgetary times,” stated Kevin Krenitsky MD, Chief Executive Officer of BioServe. “This will result in many more investigators who will be able to perform their research using very well annotated DNA samples. Experiments with these DNAs can be executed both in the investigators’ own lab, and/or at BioServe with a large variety of genomic platforms that are currently utilized. We also welcome collaborations that can make access even more affordable,” said Dr. Krenitsky.
BioServe’s DNA is obtained from human subjects that provided informed consent with strict IRB and HIPAA compliance. BioServe has obtained informed consent, detailed questionnaire data and DNA from over 120,000 subjects.
About BioServe
BioServe is a leader in the processing, development, and validation of diagnostic tests for the practice of personalized, predictive and preventive medicine. Leading pharma, biotech and diagnostic firms collaborate with BioServe to identify and validate markers that cause disease while correlating clinical and molecular data to develop new diagnostic tests, promoting wellness around the world. BioServe offers the Global Repository®, a growing library of over 600,000 human DNA, tissue and serum samples linked to detailed clinical and demographic data from more than 120,000 consented and de-identified patients from four continents. Leveraging BioServe’s robust genomic analytical services, processing technology, Global Repository and CLIA-certified laboratory, collaborators gain a complete, highly-efficient platform for obtaining diagnostic test results and identifying genomic markers for powerful new assays. BioServe has headquarters in Beltsville, MD and Hyderabad, India. For more information please visit www.bioserve.com or call 301-470-3362.
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Rentschler Biotechnologie Announces Cooperation with Boehringer Ingelheim
Last Updated on Wednesday, 21 May 2008 01:43 Written by admin Wednesday, 21 May 2008 01:43
Laupheim, Germany, Mai 21, 2008 – Rentschler Biotechnologie and Boehringer Ingelheim, both leading companies in biopharmaceutical development and production, have signed a preferred partnership agreement. The cooperation will enable Rentschler Biotechnologie’s clients to gain access to Boehringer Ingelheim’s large-scale mammalian biopharmaceutical production facilities in Biberach, Germany and vice versa, Boehringer Ingelheim’s clients to use Rentschler’s facilities of process development and intermediate-scale clinical supply production.
Through the cooperation clients from the pharmaceutical and the biotech industry will benefit from the combined development and manufacturing know-how and facilities, leading to increased flexibility and ultimately more customized services. Compatible bioprocessing methods guarantee a seamless project transfer between the companies which are conveniently located in close vicinity.
Rentschler Biotechnologie, a full-service contract manufacturer focused on process development and small to medium scale production of mammalian cell-derived biopharmaceuticals, currently operates eight independent GMP lines with fermenter volumes of up to 500 L. A 2,500 L has recently been qualified and is going to start operations. Boehringer Ingelheim, who offers similar services with technologies optimized for large scale industrial production, runs one of the world’s largest biotech facilities with fermenter volumes of up to 15,000 L.
“The cooperation with Boehringer Ingelheim will increase the value of our services, as both companies will benefit from the combined expertise and the easy transfer from small/medium to large scale production†commented Dr. Wieland W. Wolf, Vice Chairman of the Rentschler Group.
Prof. Dr. Dr. h.c. Rolf G. Werner, Corporate Senior Vice President of the Corporate Division Biopharmaceuticals, Boehringer Ingelheim GmbH said “Rentschler Biotechnologie is a strong partner for process development and supply of clinical material in Europe and complements our worldwide strategic Production Alliance Network. Based on compatible process technologies and Boehringer Ingelheims proprietary know-how and expertise in high titer and high yield manufacturing process formats we will combine state-of-the-art development at Rentschler for accelerated time to clinic with a smooth technology transfer to Boehringer Ingelheim for large-scale commercial manufacturingâ€.
Link to the press release:
http://www.b3c.de/php/popup.php?id=103
About Rentschler Biotechnologie – www.rentschler.de
Rentschler Biotechnologie GmbH is part of the privately held Rentschler Group based in Laupheim, Germany. As an international full-service contract manufacturer with a highly skilled staff of 340, Rentschler Biotechnologie has substantial experience in the development, production and approval of cell culture-derived biopharmaceuticals in compliance with international GMP standards. Regulatory advice and fill & finish are part of the company’s service range. As a pioneer in the development and production of biopharmaceuticals, Rentschler was the first company world-wide to gain market authorization for an interferon-containing drug. In 2006, Rentschler announced an investment program of €50 million for expansion of production systems. Currently the first 2,500-L GMP fermentation line is being commissioned.
About Boehringer Ingelheim – www.boehringer-ingelheim.com/biopharm
The Boehringer Ingelheim group is one of the world’s 20 leading pharmaceutical companies. Headquartered in Ingelheim, Germany, it operates globally with 135 affiliates in 47 countries and nearly 39,800 employees. Since it was founded in 1885, the family-owned company has been committed to researching, developing, manufacturing and marketing innovative products of high therapeutic value for human and veterinary medicine. In 2007, Boehringer Ingelheim posted net sales of almost 11 billion euro while spending one fifth of net sales in its largest business segment Prescription Medicines on research and development.
Boehringer Ingelheim is one of the leading companies for industrial customer manufacturing of Biopharmaceuticals by offering the entire production technology chain in development and production at its biopharmaceutical facilities in Biberach (Germany) and in Vienna (Austria). The large scale manufacturing sites deliver biopharmaceutical products like therapeutic proteins, fusion proteins, protein scaffolds, monoclonal antibodies, antibody fragments and plasmid DNA. The Biberach site is specialized in highly efficient mammalian cell culture systems with yields well above industry standard in animal component free media. The Austria site offers high-expression in bacteria and yeast with exceptionally high productivities using proprietary systems. In the plasmid DNA manufacturing arena Boehringer Ingelheim in Austria has set the standard and supplies early to late-stage clinical trials with gene-therapeutics and DNA vaccines for its international clients. For more information see: http://www.boehringer-ingelheim.com/biopharm
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Rentschler Biotechnologie gibt Zusammenarbeit mit Boehringer Ingelheim bekannt
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Laupheim, 21. Mai 2008 – Rentschler Biotechnologie und Boehringer Ingelheim, beides führende Unternehmen im Bereich der biopharmazeutischen Entwicklung und Herstellung, haben eine „preferred partnership“-Vereinbarung unterschrieben. Durch die Zusammenarbeit erhalten Kunden von Rentschler Biotechnologie Zugang zu Boehringer Ingelheims großtechnischen Anlagen zur biopharmazeutischen Produktion in Säugetierzellen in Biberach. Im Gegenzug erhalten Boehringer Ingelheims Kunden die Möglichkeit, Rentschlers Anlagen für Prozess-Entwicklung und Herstellung von klinischen Prüfmustern im mittleren Maßstab zu nutzen.
Die Zusammenarbeit ermöglicht den Kunden aus der Pharma- und Biotech-Industrie die kombinierte Entwicklungs-und Herstellungserfahrung und die Produktionsinfrastruktur beider Unternehmen zu nutzen, Serviceleistungen können durch die gewonnene Flexibilität optimal auf Kundenwünsche abgestimmt werden. Beide Unternehmen liegen in räumlicher Nähe zueinander und verfügen über kompatible Prozess-Technologien, so dass ein nahtloser Übergang bei Projekttransfers gewährleistet ist.
Rentschler Biotechnologie, ein Full-Service-Auftragshersteller für biopharmazeutische Prozess-Entwicklung und Produktion in Säugetierzellen vom kleinen bis mittleren Maßstab, besitzt zurzeit acht unabhängige GMP-Produktionsanlagen mit Fermentervolumina bis zu 500 Litern. Eine weitere 2.500 L Anlage wird derzeit in Betrieb genommen. Boehringer Ingelheim bietet ähnliche Leistungen und Technologien allerdings für die großtechnische Marktproduktion und betreibt eine der weltweit größten Produktionsanlagen mit Fermentervolumina bis zu 15.000 Litern.
„Die Zusammenarbeit mit Boehringer Ingelheim wird den Nutzen unserer Dienstleistungen weiter erhöhen. Beide Unternehmen werden von der gemeinsamen Erfahrung sowie dem leichten Prozess-Transfer von dem kleinen/mittleren Maßstab in den großen Maßstab profitieren“, kommentiert Dr. Wieland W. Wolf, Stellvertretender Geschäftsführer der Rentschler Gruppe.
Prof. Dr. Dr. h.c. Rolf G. Werner, Corporate Senior Vice President der Corporate Division Biopharmaceuticals, Boehringer Ingelheim GmbH:“Rentschler Biotechnologie ist ein starker Partner für Prozessentwicklung und Herstellung von klinischem Prüfmaterial in Europa und ergänzt unser weltweites Netzwerk strategischer Produktionsallianzen. Basierend auf kompatiblen Prozesstechnologien und Boehringer Ingelheims geschütztem Know-How und Erfahrung in Hochtiterverfahren mit hoher Ausbeute kombinieren wir modernste Prozessentwicklung bei Rentschler für zügige Bereitstellung von klinischem Prüfmaterial mit einem nahtlosen Technologietransfer zur kommerziellen Fertigung im Großmaßstab bei Boehringer Ingelheim.“
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Link zur Pressemitteilung:
http://www.b3c.de/php/popup.php?id=104
Über Rentschler Biotechnologie – www.rentschler.de
Rentschler Biotechnologie GmbH ist ein Unternehmen der Rentschler Gruppe mit Sitz in Laupheim, Deutschland. Als internationales Full-Service-Auftragsunternehmen mit 340 hochqualifizierten Mitarbeitern hat Rentschler Biotechnologie über 30 Jahre Erfahrung mit der Entwicklung, Produktion und Zulassung von Biopharmazeutika, konform mit den internationalen GMP-Standards. Zum Servicespektrum des Unternehmens gehören auch die Zulassungsberatung und Fill & Finish. Rentschler zählt zu den Pionieren bei der Entwicklung und Herstellung von biopharmazeutischen Produkten und war weltweit das erste Unternehmen, das die Zulassung für ein Interferonpräparat erhalten hat. 2006 gab Rentschler ein Investitionsprogramm von 50 Millionen Euro zur Erweiterung der Produktionsanlagen bekannt. Die erste neue 2.500 L GMP Anlage befindet sich zurzeit in der Qualifizierung (IQ/OQ) und wird im Juni 2008 in Betrieb gehen.
Ãœber Boehringer Ingelheim – www.boehringer-ingelheim.com/biopharm
Der Unternehmensverband Boehringer Ingelheim zählt weltweit zu den 20 führenden Pharmaunternehmen. Mit Hauptsitz in Ingelheim am Rhein ist Boehringer Ingelheim weltweit mit 135 verbundenen Unternehmen in 47 Ländern tätig und beschäftigt fast 39.800 Mitarbeiter. Schwerpunkte des 1885 gegründeten Unternehmens in Familienbesitz liegen in der Forschung, Entwicklung, Produktion sowie dem Marketing neuer Arzneimittel mit hohem therapeutischem Nutzen für die Humanmedizin sowie die Tiergesundheit. Im Jahr 2007 erwirtschafte Boehringer Ingelheim Gesamterlöse von 11 Milliarden Euro. Fast ein Fünftel der Einnahmen aus dem größten Bereich – verschreibungspflichtige Medikamente – investierte das Unternehmen in die Forschung und Entwicklung neuer Medikamente.
Boehringer Ingelheim ist eines der führenden Unternehmen in der Auftragsentwicklung und -herstellung von Biopharmazeutika und bietet an seinen Standorten in Biberach/Riss (Deutschland) und Wien (Österreich) die gesamte biopharmazeutische Prozesskette an – von der Entwicklung der Produktionszelle über die Prozessentwicklung bis zur Herstellung des Marktproduktes im wirtschaftlichen Maßstab. In den Produktionsanlagen werden biopharmazeutische Produkte wie therapeutische Proteine, Fusionsproteine, Protein-Scaffolds, monoklonale Antikörper, Antikörperfragmente und Plasmid-DNA-Produkte im Großmaßstab hergestellt. Am Standort Biberach liegt der Schwerpunkt der biopharmazeutischen Herstellung auf der Hochexpression in Säugetierzellkulturen mit Ausbeuten weit über dem Branchenstandard in ACF-Medien (ohne tierische Komponenten), am Standort Wien auf der Hochexpression in Mikroorganismen und Hefekulturen mit außergewöhnlich hoher Produktivität unter Einsatz selbst entwickelter Systeme. Auf dem Gebiet der Herstellung von Plasmid-DNA-Produkten setzt Boehringer Ingelheim in Österreich den weltweiten Maßstab und beliefert sowohl frühe als auch späte klinische Studien für seine internationalen Auftraggeber mit Gentherapeutika und DNA-Impfstoffen.
Weitere Informationen: http://www.boehringer-ingelheim.com/biopharm
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Seegene Multi-Pathogen Detection Tests Now Compatible with Lab901 ScreenTape and Caliper LC90 Automated Detection Systems
Last Updated on Wednesday, 30 April 2008 05:36 Written by admin Wednesday, 30 April 2008 05:36
Rockville, MD, April 23, 2008: Seegene today announced that its Seeplex(R) multi-pathogen tests are now optimized for Lab 901′s ScreenTape(R) and Caliper LifeSciences’ LC90(R) automated detection systems. Compatibility with these two leading detection systems opens the way for Seeplex tests to be used throughout a wide spectrum of labs, from small to mid-sized labs to large commercial reference labs.
Seeplex tests are based on a breakthrough multiplexing PCR technology capable of detecting multiple pathogens in a single tube. Seeplex-based tests deliver maximum specificity, reproducibility and sensitivity and can be applied to a broad range of molecular diagnostics, including human, animal, plant and microorganism. Currently, Seegene’s Seeplex multi-pathogen detection tests offer labs worldwide simple, cost-effective and comprehensive screening for STDs, respiratory viruses, human papillomaviruses, sepsis and pneumonia.
“Our broad portfolio of multi-pathogen detection tests being optimized for ScreenTape and the Caliper LC90 systems will make it easier for clinical and research labs of all sizes to take advantage of our technology,†said Dr. Jong-Yoon Chun, Founder and Chief Executive Officer, Seegene. “Both the Lab901 and Caliper LifeSciences systems represent the cutting edge of automated detection. Working in combination with these leading systems provides a powerful high-throughput method for analyzing test results.â€
The ScreenTape system is the first fully automated, walk-away solution for gel electrophoresis. ScreenTape will automate the simultaneous analysis of eight or sixteen Seeplex PCR samples. Processing speed for 8 samples is completed within 10 minutes;Â 16 samples within 15 minutes. ScreenTape displays results using easy to interpret color codes. The ScreenTape system comprises the TapeStation (that carries out liquid handling, electrophoresis and imaging), ScreenTape (a consumable that contains the pre-cast, pre-packaged gel and running buffer) and bespoke software. With no gel or buffer preparation and no system priming, even untrained operators can rapidly generate accurate and reproducible test data.
The LabChip 90 System performs fast, automated, 1-D electrophoretic separations of protein, DNA, and RNA samples directly from a 96 or 384 well plate. The LC90 can load and read 96 Seeplex samples within 45 minutes or 384 Seeplex samples in 4 hours in easy-to-interpret reports.
Seegene is currently working to optimize Seeplex tests for other automated capillary electrophoresis systems. Seeplex’s compatibility with a wide range of automated detection systems will provide end-users with the flexibility to use the platform best suited for their purposes.
About Seeplex(R) System: Frontier of Multi-pathogen Detection
Seeplex(R) is a breakthrough multiplexing PCR technology that enables a new standard in simultaneous multi-pathogen detection. Seeplex works in combination with automatic detection systems such as Capillary Electrophoresis and delivers a benchmark in testing accuracy, efficiency and cost-effectiveness.
About Seegene
Seegene, Inc. is pioneering the field of multi-pathogen testing. Seegene applies its novel and proprietary Seeplex system utilizing “DPO (Dual Priming Oligo)” and “ACP (Annealing Control Primer)†to create multi-pathogen tests delivering maximum specificity, reproducibility and sensitivity. With over 260 citations and several patents and patents pending, Seegene has been offering advanced molecular diagnostics services to over 1,000 major global institutes in more than 25 countries. Seegene is actively working with both the scientific and OEM business community. Seegene’s mission is to integrate Seeplex with disease diagnostics to provide a new guideline for effectively treating patients. Seegene was founded in 2000 and is based in Rockville, MD and Seoul, Korea. For more information please visit www.seegene.com.
Posted under DNA Reasearch, Equipment & Supplies, New Products, North America, Press Releases, RNA Reasearch | Comments Off