Friday, February 10, 2012

Site Search

Archive for the ‘Genetics & Pharmacogenetics’ Category

Nigeria: FG and Cost of Cancer Screening

THE Federal Government’s recent directive to its hospitals to reduce the cost of cancer screening, though very commendable, is long overdue, considering that late diagnosis of the disease has resulted in the high rate of cancer related deaths in the country.

Cancer is one of the leading causes of deaths in the world, especially in developing countries, which carry about 80 per cent of the burden, globally. Unfortunately, in Nigeria with over 160 million people, going by the latest global report on population, detection of the killer non-communicable disease (NCD) is usually late.

Minister of Health, Prof. Onyebuchi Chukwu, who announced the reduction in the cost of screening for breast, cervical, prostate and colon cancers during the recent 17th Annual Conference of the Nigerian Association of Urological Surgeons (NAUS) in Abuja, said the directive to provide screening services at affordable prices is to ensure that the disease is detected early.

Other measures being taken by government to tackle the cancer scourge, he said, include equipping fully the University of Port Harcourt Teaching Hospital, the Federal Medical Centre, Gusau, Zamfara State and the Vesico Virginal Fistula (VVF) Centre, Abakaliki, Ebonyi State with mammography machines, cryoprobes, video culposcopes, ultrasound, loop electrosurgical excision procedure and enzyme-linked immunosorbent assay machines, so that these institutions can serve as referral centres for those who screen positive for pre-malignant lesions.

With the World Health Organisation (WHO) projecting that about 84 million people may die of cancer by 2015 if urgent steps are not taken to arrest the scourge, there is, indeed, need to facilitate a national policy on cancer management, starting with free or significantly reduced cost of cancer screening.

These moves by the Federal Government are steps in the right direction, considering that cancer is one disease that is no respecter of social status and one that has continued to deal devastating blows on the productive segments of the nation’s economy.

Among notable Nigerians whose lives were cut short by cancer are human rights activist and lawyer, Chief Gani Fawehinmi, who died in 2009 after a prolonged battle with lung cancer, Dr. Bekolari Ransome-Kuti, a medical doctor and human rights activist and Yemi Tella, coach of the Nigerian 2007 FIFA U-17 World Cup winning team.

Maryam, wife of former military president, Gen. Ibrahim Babangida, died of ovarian cancer on December 27, 2009 at California’s City Hope Hospital in the United States, aged 61, while the wife of Edo State Governor, Adams Oshiomhole, was swept away by cancer of the breast.

Presently, about two million cancer cases are said to be recorded in Nigeria with an estimated 350,000 new cases being diagnosed annually. Of the two million, only 10 per cent or about 200,000, have access to hospitals with radiotherapy facilities, while out of the number, only five per cent, about 10,000, have the resources to go abroad where they pay between $10,000 and $15,000 per patient for a three to five-weeks course of radiotherapy.

While about 27 per cent of the two million cases are suffering from breast cancer, about 25 per cent are cancer of the cervix cases. And of these two cancers that are devastating women in Nigeria, one has good prognosis, if detected early, while the other can be prevented. Yet they continue to cause untold hardships and deaths simply because of the dearth, and high cost, of facilities, especially for early detection, among other constraints.

Nigeria’s mortality and morbidity statistics for cancer are said to be high due to the late presentation syndrome involving 83-87 per cent of cancer patients, simply because the awareness level of Nigerians, especially women, is very low, even as this is dogged by superstition and cultural restraints.

As a matter of fact, some medical experts have argued that even the estimated 350,000 new cases of cancer diagnosed annually in Nigeria is far from the true figure of the cancer crisis in the country, insisting that a large number of cancers are not detected as majority of Nigerians are poor and live in rural areas, far removed from health facilities.

Lack of, or inadequate, research into this debilitating disease is also a major challenge. Nigeria, for instance, is said to contribute little or nothing to the global body of literature on cancers and most of these contributions are hospital based, perhaps representing the tip of the iceberg as majority of Nigerians live in rural areas, unable to access any health facilities.

As such, the cancer awareness efforts and screening methods to enhance early detection do not seem to have had much impact on the nation.

No doubt, the problems of lack of access to quality health care, ignorance, poverty and poor co-ordination of issues of health education complicate issues. For instance, facilities such as computerised tomography (CT) and Magnetic Resonance Imaging (MRI) are difficult to come by, and when available, the cost of accessing such facilities put them out of reach of the average citizen.

Of more concern is the fact that clinical services for cancer are grossly inadequate and poorly distributed. Only a few centers have functioning radiotherapy equipment, and though radiologic services are said to be generally available, access is seriously limited by high cost.

So, while the Federal Government’s move to reduce the cost of cancer screening in federal hospitals is commended, we call on the authorities to ensure that the screening equipment are available and more easily accessible, especially in the rural areas, while a more vigorous and better co-ordinated effort into cancer research must be encouraged in institutions across the country.

Source: http://allafrica.com/stories/201111241060.html

First Clinical Trial of Autologous Cardiac Stem Cells Shows Positive Results

Initial data from the first ever trial to evaluate autologous cardiac stem cell (CSC) transplants in humans suggests that the treatment improves left ventricular (LV) systolic function by an average of 12% over one year, and reduces infarct size in patients with severe heart failure due to ischemic heart disease. The trial investigators say the results triple the 4% average improvement that they had projected and calls for the start of larger Phase II trials.

Stage A of the ongoing open-label Phase I SCIPIO (Stem Cell Infusion in Patients with Ischemic cardiOmyopathy) study, by investigators at the University of Louisville and Brigham and Women’s Hospital, is evaluating CSC transplantation in patients with severe heart failure secondary to ischemic cardiomyopathy. The target population includes patients who underwent coronary artery bypass grafting (CABG), had LV ejection fraction (EF) of less than or equal to 40%, and a previous myocardial infarction.

Treated patients were administered with about a million autologous CSCs by intracoronary infusion, at a mean of 113 days after CABG. To generate the cardiac stem cells, tissue from the right atrial appendage was harvested from the patients at the time of CABG, and CSCs were isolated and expanded at the Brigham and Women’s Hospital.

Data from 14 of 16 patients assigned to the treatment group, and seven from the control group (best supportive care), have now been published in The Lancet to coincide with data presentation at the American Heart Association’s Scientific Sessions meeting in Orlando, FL. The reported data showed that autologous CSC transplantation led to an increase in LVEF from 30.3% before CSC infusion to 38.5% at four months after infusion. In contrast, the LVEF of seven control patients didn’t change over eight months. The benefits of CSC transplantation was even more pronounced at one year in eight evaluated patients, for whom LVEF increased by 12.3 ejection fraction units compared with baseline. In the seven treated patients evaluated using MRI, infarct size was also shown to have decreased by 24% at 4 months, and 30% at one year.

The trial has been led by Roberto Bolli, M.D., at the University of Louisville and Piero Anversa, Ph.D., at Brigham and Women’s Hospital/Harvard Medical School in Boston. “The results are striking,” Dr. Bolli states. “While we do not yet know why the improvement occurs, we have no doubt now that ejection fraction increased and scarring decreased. If these results hold up in future studies, I believe this could be the biggest revolution in cardiovascular medicine in my lifetime.”

The published paper in The Lancet is titled “Cardiac stem cells in patients with ischaemic cardiomyopathy (SCIPIO): initial results of a randomised Phase I trial.”

Source: http://www.genengnews.com/gen-news-highlights/first-clinical-trial-of-autologous-cardiac-stem-cells-shows-positive-results/81245949/

FDA Clears Abbott’s Confirmatory Chagas Disease Assay

FDA approved Abbott’s in vitro enzyme strip assay for Chagas disease. The Abbott ESA Chagastest detects antibodies to the causative pathogen Trypanosoma cruzi in serum or plasma samples. It is indicated for use as an additional, more specific test on human samples that have been found to be repeatedly reactive using a licensed screening test.

The T. cruzi parasite is transmitted through contact with the feces of an infected triatomine bug, but infection can also occur congenitally, through transfusions of contaminated blood products, or through an organ transplant from an infected donor.

U.S. Centers for Disease Control and Prevention (CDC) estimates suggest that as many as 11 million people worldwide are infected with Chagas disease, including over 300,000 in the U.S. alone. Concerns about Chagas disease transmission through blood led FDA to implement mandatory Chagas disease screening of donated blood back in 2007. “The new Abbott ESA Chagas test provides organizations that screen blood with an approved testing method help the blood supply safe and enable them to confidently counsel infected donors,” remarks John Coulter, divisional vp for Abbott’s diagnostics business.

Source: http://www.genengnews.com/gen-news-highlights/fda-clears-abbott-s-confirmatory-chagas-disease-assay/81245981/

Insulin May Help Treat Alzheimer’s

Researchers are investigating insulin as a possible treatment for Alzheimer’s disease, and in a preliminary study, the results look promising.A study in the journal Archives of Neurology suggests that intranasal insulin – that is, delivered through the nose – may help with cognition and functioning in patients who have both mild and more severe dementia.It’s premature to think of this as a treatment; the study only looked at 104 people, and needs to be repeated in much larger groups before it can be deemed effective. But it sets the stage for broader clinical trials.Recent research has suggested that insulin plays an important role in a number of brain functions, in addition to regulating blood sugar. Insulin promotes cell repair and cell genesis, so the thinking is that it could actually modify the course of Alzheimer’s disease, says lead study author Suzanne Craft, professor of psychiatry at VA Puget Sound and University of Washington.It also appears to protect against the toxic effects of beta-amyloid, the protein involved in the brain plaques associated with dementia. Insulin also prevents the formation of the toxic form of tau, a biomarker found in the cerebrospinal fluid of Alzheimers’ patients, Craft said.”What we saw was that for the insulin-treated patients, the ones who had improvement in memory and function had improvement in spinal fluid biomarkers,” she said.The goal of this study was to supplement and normalize the insulin levels in the brain without affecting levels in the rest of the body. This was done with a device that was designed to deliver insulin through the nose to the brain without getting too much into the blood.Researchers tested patients who had either early Alzheimer’s or mild cognitive impairment, a team for the early stages of dementia.Patients treated with insulin were able to remember information over a period of time better than those who got placebo; in fact, performance improved 20%. They also showed an enhancement in brain glucose metabolism in some areas; those who received placebo tended to show a decline.Alzheimer’s patients in the insulin group benefited more in terms of daily function than those with mild cognitive impairment, but by definition mild cognitive impairment does not greatly impair daily functioning.The treatment had the mild side effects of occasional mild headache and runny nose, but had a good safety profile generally, Craft said.In patients with mild cognitive impairment, researchers observed improvement in daily function and general cognitive abilities.But researchers don’t know what would be the optimal dosing and schedule of intranasal insulin for treating dementia; that is still an open question.So what does this mean for diabetics who already give themselves daily injections of insulin to manage their condition? Researchers don’t yet understand how much of that insulin is actually getting into the brain, Craft said; and if you’re not diabetic, having high levels of insulin in the blood is probably not good in the long run, so no one should experiment with this at home. Diabetes is a known risk factor for Alzheimer’s, but there are a lot of unanswered questions about that connection.

Source: http://www.kxly.com/health/29172695/detail.html

Ark to Manufacture PsiOxus’ IV-Administered Oncolytic Virus for Clinical Trials

    Ark Therapeutics negotiated a manufacturing partnership with PsiOxus Therapeutics for the latter’s ColoAd1 candidate for the treatment of colorectal cancer. Under terms of the agreement Ark will work with PsiOxus to generate an IV formulation of the adenovirus-based oncolytic product using its suspension-based single-use system (ATOSUS) for toxicological and Phase I/II clinical studies.

    ColoAd1 is an Ad3/Ad11p hybrid, designed as a broad-spectrum anticancer therapeutic capable of destroying tumor cells at minute concentrations, but with minimal damage to healthy tissue. The oncolytic virus has been generated using the evolutionary principle of natural selection, to generate a candidate that PsiOxus claims demonstrates anticancer potency at 0.1–10 femtomolar concentration, including activity against drug-resistant cancers. The initial target indications for ColoAd1 will be metastatic colorectal cancer and primary hepatic cellular carcinoma.

    The evolutionary approach used to generate ColoAd1 involves generating a chimeric adenovirus library by homologous recombination under atypical conditions of super-infection, PsiOxus explains. Multiple rounds of selection are subsequently carried out to identify strains with a tumor-dependent phenotype that also rapidly killed tumor cells. Candidate oncolytic viruses are then screened on normal cells to select a candidate with optimal therapeutic index.

    PsiOxus was established in December 2010 through the merger of Myotec Therapeutics and Hybrid BioSystems. The ColoAd1 candidate originated at Hybrid Biosystems, a firm initially established to exploit viruses as therapeutics. The candidate was developed by Hybrid in collaboration with Bayer Schering. Hybrid Biosystems also developed the PolyStar vaccine vector system, and PolyMap adjuvant/immunotherapeutics platform, both of which PsiOxus inherited when it was formed last year.

    PsiOxus’ lead clinical-stage compound, MT-102, is a small-molecule anabolic catabolic transforming agent, which is currently undergoing a placebo-controlled Phase II trial as a treatment for disease-related cachexia. MT-102 was originally developed by Myotec, itself an Imperial College London spin-out established to progress work by university scientists on the underlying mechanisms of cachexia. PsiOxus says promising preclinical results from in vivo studies evaluating MT-102 against age-related sarcopenia will also be followed up through future clinical studies.

    Source: http://www.genengnews.com/gen-news-highlights/ark-to-manufacture-psioxus-iv-administered-oncolytic-virus-for-clinical-trials/81245663/

Clinical Successes and New Technologies Revive Gene Therapy

    The prospect of curing human diseases by replacing a disease-related gene with a normal version remains the ultimate goal of gene therapy. But in its early days, attempts at gene therapy met with unpredictable and occasionally fatal outcomes. The field sustained a serious setback in 2000 following the death of 18-year old Jesse Gelsinger after receiving gene therapy to treat orinthine trascarbamlase deficiency (OTCD), a rare metabolic disorder that prevents the body from breaking down ammonia.

    Gene therapy took another blow in September 2003, when the FDA placed a temporary halt on all gene therapy trials using retroviral vectors in blood stem cells. The agency was responding to the development of a leukemia-like disorder that developed in a three-year-old boy following successful gene therapy for to X-linked severe combined immunodeficiency disease (X-SCID). Subsequently, the disease developed in three children, one of whom died from it.

    Now, bolstered by the development of enabling technologies and recent clinical successes, gene therapy is making a significant comeback. Effective gene delivery has been established in multiple formats including direct DNA delivery, genetically engineered autologous cells, and specifically targeted gene modification or insertion.

    Adrenoleukodystrophy

    In 2009, international teams of researchers reported the successful treatment of two children suffering from adrenoleukodystrophy (ALD). ALD is a severe hereditary condition caused by mutations in ABCD1 gene, which encodes the adrenoleukodystrophy protein (ALDP), a protein involved in fatty acid degradation.

    Over the course of the disease, afflicted individuals steadily lose the myelin sheath that surrounds nerve cells. Myelin loss results in loss of nerve function, leading to increasing physical and mental disability. X-linked ALD, the most common form of the disease, affects boys as early as age six, with death usually occurring before the patients reach adolescence.

    While ALD progression can be halted by allogeneic hematopoietic cell transplantation (HCT), finding correctly matched donors and the inherent dangers in the procedure present problems.

    Investigators in France reported successful treatment of two ALD patients for whom there were no matched donors. They first removed CD34+ cells, then transfected the cells ex vivo with a lentiviral vector encoding the wild-type correct form of the gene encoding ALDP, and finally re-infusing them into the patients after they had received myeloablative treatment.

    Over a span of 24 to 30 months of follow-up, the authors said, they could detect polyclonal reconstitution, with 9 to 14% of granulocytes, monocytes, and T and B lymphocytes expressing the ALD protein.

    Beginning 14 to 16 months after infusion of the genetically corrected cells, progressive cerebral demyelination in the two patients stopped, a clinical outcome comparable to that achieved by allogeneic HCT. Thus, the authors said, lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in ALD.

    Leber Congenital Amaurosis

    Another successful area for gene therapy has been Leber congenital amaurosis (LCA), a heritable form of progressive blindness. LCA, the result of a mutation in the RPE65 gene, may be treatable by introducing a normal copy of the mutated gene directly into the retinas of affected individuals.

    Normally, the RPE65 protein converts dietary vitamin A into a retina-specific form of vitamin A needed for rhodopsin formation. Rhodopsin is a visual pigment that absorbs light after it enters the eye, and it requires the RPE65 protein to regenerate after light exposure. Therefore, mutations in the RPE65 gene seen in LCA disrupt the visual cycle and prevent normal vision.

    Several groups have reported progress in treating the disease in individuals with the specific mutation. In 2008, these researchers administered subretinal injections of recombinant adeno-associated virus (AAV) vector expressing RPE65 complementary DNA (cDNA) under the control of a human RPE65 promoter.

    Investigators concluded that the safety, extent, and stability of improvement in vision in all patients support the use of AAV-mediated gene therapy for treatment of inherited retinal diseases, with early intervention resulting in the best potential gain.

    HIV/AIDS

    Apart from advancements in DNA delivery and in vectors for gene delivery into patients’ cells, zinc finger nuclease technology may prove truly transformative to gene therapy in general. Zinc finger nucleases (ZFNs) are synthetic proteins consisting of an engineered zinc finger DNA-binding domain fused to the cleavage domain of a restriction endonuclease. These engineered molecules allow cellular DNA to be cut at specific points, with gene modification then occurring via the cell’s own natural repair mechanisms. They may also allow the insertion of entire genes at desired cleavage sites to replace missing or mutated genes.

    Sangamo and colleagues from the University of Pennsylvania announced positive preliminary data from their Phase I trial being conducted in HIV-infected immunologic nonresponders. The patients enrolled in this study were HIV-infected individuals on highly active antiretroviral therapy with undetectable levels of virus but low T-cell counts.

    The investigators used zinc fingers custom-designed to bind to specific DNA sequences in the CCR5 gene in HIV-infected patients’ T cells. The zinc finger proteins act as molecular scissors, bringing a DNA enzyme to the CCR5 gene to cut its sequence. During the repair process, a new mutation arises in the CCR5 protein, rendering it nonfunctional. Since the HIV virus uses the normal, unmodified version of CCR5 to gain access to T cells, the engineered cells became completely resistant to infection.

    The data showed that a single infusion of the engineered cells was well tolerated, and the CCR5-modified cells successfully engrafted in all of the patients. The treatment also resulted in a durable improvement in total CD4+ T-cell counts in five of six patients analyzed.

    The ZFN-CCR5-modified cells also exhibited normal T-cell growth kinetics and trafficking and underwent selective expansion in the gut mucosa, a major reservoir of virus in the body, suggesting, as predicted, that the cells were resistant to HIV infection.

    Sangamo’s Philip Gregory, CSO and vp, research, told GEN that the goal of developing the company’s zinc finger nuclease program “has been to give investigators the ability to perform precision engineering directly on the genome itself.”

    In the HIV application, he pointed out, no new DNA is being introduced. “We are really introducing a mutation ourselves just with the nucleases. We were able to do this because DNA repair mechanisms themselves are error prone. When the cells repair the break generated by the ZFN, the process occurs without error checking and mutations are introduced specifically at the site of the break. We can use this to achieve one desired outcome, knockout of the gene that’s been cleaved by the nuclease—in this case, the CCR5 gene. When the cell repairs it, it will create mutations.”

    In explaining the production process for the autologous cells carrying the mutated CCR5 gene, Gregory said that the cells are collected from patients and sent to a processing facility, where they are exposed to the ZFN. The cells are expanded, and then re-infused into the patient, where they engraft, expand in the patients, and get trafficked to the normal place in the body.

    “These cells are noninfectable by HIV,” Gregory said. He further explained that “just by protecting T cells, we aimed to create a reservoir of these cells that couldn’t be infected. These cells protect against loss of cells in HIV-infected patients.”

    Gregory emphasized that CCR5 itself as a target “is one of the few situations in which we know the biology of the protein from the situation that exists in the natural population of patients. Patients with the Delta 32 CCR5 mutation don’t have the receptor on their cells and are completely normal but are resistant to infection.

    “It turns out,” he said, “that an important feature of that mutation is that it eliminates CCR5 completely, giving rise to cells with no receptor on their surfaces.”

    Sangamo says it is testing its product across a full range of HIV patients including those for whom current drug regimens are failing. “We are making good progress and are letting the data tell us where to focus our further clinical trials.”

    All this progress, investigators point out, represents the culmination of years of experience, encompassing multiple disciplines from molecular biology through clinical science. And hopefully as positive clinical results continue to emerge, effective gene therapy, in whatever format, will become a real therapeutic option for intractable human diseases.

    Source: http://www.genengnews.com/analysis-and-insight/clinical-successes-and-new-technologies-revive-gene-therapy/77899451/

Genetic Link Predisposes to Mesothelioma

An investigation led by scientists at the University of Hawaii Cancer Center, Honolulu, and Fox Chase Cancer Center, Philadelphia has identified germline mutations in the BAP1 gene that predispose individuals to malignant mesothelioma. The research, published online yesterday in Nature Genetics, describes two U.S. families with a high incidence of mesothelioma, as well as other cancers, associated with mutations of the gene BAP1 [1].

Scientists have discovered that individuals who carry a mutation in a gene called BRCA1-associated protein 1 (BAP1) are susceptible to developing two forms of cancer — mesothelioma and melanoma of the eye. When these individuals are exposed to asbestos or similar mineral fibers, their risk of developing mesothelioma, an aggressive cancer of the lining of the chest and abdomen, may be markedly increased.

Mesothelioma tumors are typically associated with asbestos and erionite exposure. Erionite is a naturally occurring mineral fiber similar to asbestos that is found in rock formations and volcanic ash. Deposits have been located in at least 12 states. However, unlike asbestos, erionite is not currently regulated by the U.S. Environmental Protection Agency as one of the six asbestos fibers [2]. Only a small percentage of people exposed to asbestos or erionite actually develop mesothelioma.

Mesothelioma is one of the deadliest forms of cancer, killing approximately 3,000 people each year in the United States, with half of those diagnosed dying within one year. Moreover, rates of new cases of mesothelioma in parts of the world, including Europe and China, have risen steadily over the past decade.

Michele Carbone, M.D., Ph.D., study co-leader and director of the University of Hawaii Cancer Center, said [3]:

This discovery is a first step in understanding the role of the BAP1 gene and its potential utility when screening for mutations in those at high risk. Identifying people at greatest risk for developing mesothelioma, especially those exposed to dangerous levels of asbestos and erionite worldwide, is a task made easier by virtue of this discovery.

Joseph R. Testa, Ph.D., study co-leader and Carol and Kenneth E. Weg chair in Human Genetics at Fox Chase Cancer Center, added [3]:

This is the first study to demonstrate that individual genetic makeup can greatly influence susceptibility to mesothelioma. People exposed to dangerous levels of asbestos or erionite, those with a strong family history of mesothelioma, or those who have been previously diagnosed with a rare tumor of the eye known as uveal melanoma, may benefit from this new discovery.

The researchers focused on two US mesothelioma families — one in Wisconsin and one in Louisiana — in which members were not exposed to asbestos or erionite. Family members developed a number of malignancies, including breast, ovarian, pancreatic and renal cancers, although mesothelioma predominated.

The scientists suspected that mutations in the BAP1 gene might underlie mesothelioma in people with a strong family history of the disease after noticing genetic changes in or near other stretches of DNA where the BAP1 gene is located. Looking more closely at two families with unusually high rates of mesothelioma, they saw that every person who had provided a sample and had developed mesothelioma or melanoma of the eye also carried mutations in the BAP1 gene. Further study led to sequencing the gene in 26 individuals who had developed mesothelioma but did not have a family history of the disease. Tumors from about 25 percent of this group carried mutations in the BAP1 gene, and in two cases the mutations were inherited. Both of the individuals with inherited mutations had previously developed melanoma of the eye.

The researchers hypothesize that when individuals with BAP1 mutations are exposed to asbestos, mesothelioma predominates over melanoma of the eye. Alternatively, the BAP1 mutation alone may be sufficient to cause mesothelioma, providing a cause for tumors that arise spontaneously without previous environmental exposure.

Source: http://www.highlighthealth.com/research/genetic-link-predisposes-to-mesothelioma/

Scientists Claim Differentiated Cancer Cells Can Convert to Stem-Like Cells to Maintain Equilibrium

    Cells in individual tumors can interconvert into different cell types including reverting into cancer stem cells in order to maintain equilibria in terms of the proportion of cells existing in different states within the cancer, researchers claim.They found that rather than existing as a hierarchical society in which all cells are derived from cancer stem cells, cancers exist as a decentralized society of different cell types that can sense when one type of cell has been depleted and generate new cells of the relevant type to take their place.

    The group included scientists at the Massachusetts of Institute of Technology Broad Institute, Tufts University, and Harvard Medical School. Details are published in Cell in a paper titled “Stochastic State Transitions Give Rise to Phenotypic Equilibrium in Populations of Cancer Cells.” Results could have significant implications for cancer cell therapy, claim lead researchers Eric S. Lander, Ph.D., and Piyush B. Gupta, Ph.D., because removing cancer stem cells will just prompt other cell types in the tumor to convert into stem cells to top up the population.

    One of the puzzling features of cancer cell populations is their ability to retain phenotypic equilibrium over extended periods of time, the team writes. Populations of cancer cells often harbor subpopulations with specific cell-surface marker profiles, which are stably maintained across many cell divisions in culture.

    To investigate the basis of this equilibrium-maintaining phenomenon further, the researchers isolated and separately cultured three cell types—stem-like, basal, and luminal—from two different human breast cancer lines derived from primary tumors. Each of the three cell types was confirmed to display specific morphological and cell surface marker characteristics.

    These relatively pure subpopulations of cells, which each represented a given differentiation state, were then allowed to expand in culture, and  relevant population dynamics monitored over time. Surprising, the researchers found that when they assessed the relative proportions of stem-like, basal, and luminal cells in each originally ‘pure’ population after expansion, there had been an evident rapid progression back to equilibrium proportions.

    Two lines of evidence indicated that this progression was due to interconversion between states, rather than as a result of differential growth rates of cells in the basal, stem-like, or luminal states, they claim. Firstly, there was no difference in the proliferation rates of the stem-like, basal, or luminal subpopulations sorted from either of the two stem cell lines: they all replicated at about the same rate.

    Secondly, given the purity of the original sorted populations and the rapid rate of return to equilibrium proportions, some minority subpopulations would need to have been dividing at more than three times per day to achieve the observed proportions through differential growth rate alone. “Such a high proliferation rate is implausible because even the most rapidly dividing human cells— embryonic stem cells—require at least 24 hours to complete a proliferation cycle,” they claim.

    Based on the notion that interconversion between cell states was therefore occurring, the team used data from their expanded breast cancer cell populations to developed a Markov model, in which the cell type transition probabilities depend only on a cell’s current state, not on its prior state. The inferred Markov transition probabilities thus make it possible to quantitatively predict how a population of cells evolves over time, given the initial proportions of cells in different states.

    The resulting model made several predictions about how the cell populations would develop, and these were confirmed in the cultured breast cancer populations, the researchers note. However, a number of unexpected predictions also emerged. One of these was that basal and luminal cells can transition back into a stem-like state: “that is, cancer stem-like cells can arise from non-stem-like cells.” This essentially contradicts current concepts relating to normal tissues, which assume a rigid lineage-hierarchy in which stem cells can give rise to nonstem cells, but not vice versa, they write.

    They tested this particular prediction by implanting either freshly sorted, or sorted and then cultured subpopulations of tumor cells in mice. As expected according to traditional dogma, only the stem-like fraction could efficiently seed tumors, and neither the luminal nor basal fraction was capable of doing so.

    However, because the lack of tumor-seeding ability displayed by the basal and luminals could have been due to their inability to survive after transplantation, the researchers repeated the exercise by co-inoculating the cells with GFP-labeled, irradiated parental carrier cells from one of the breast cancer lines. Under these conditions, all three fractions (stem-like, basal, and luminal) were equally capable of efficiently seeding tumors.

    Moreover, examination of the tumors arising from basal and luminal subpopulations mixed with irradiated carrier cells revealed the presence of significant numbers of stem-like cells. The proportions of basal, stem-like, and luminal cells contained in the resulting tumors were comparable irrespective of the sorted subpopulation initially used to seed the tumor.

    “Collectively, these results demonstrated that the luminal and basal fractions can indeed regenerate functional stem-like cells in vivo and suggested that convergence toward equilibrium cell-state proportions could be occurring due to cell-state interconversion within tumors,” the authors write. “A specific prediction of this quantitative model is that any subpopulation of cancer cells will return to a fixed equilibrium of cell-state proportions over time, provided that it is possible through one or more interconversions to transition between any two states.”

    The de novo generation of cancer stem cells has implications for the effectiveness of anticancer therapies focused on killing this cell type, because of the ability of other cancer cell types to regenerate cancer stem cells after cessation of therapy and lead to renewed tumor growth, they add. “Therefore, in order to be effective, cancer therapies will need to combine agents that are selectively toxic to cancer stem cells with agents that either target the bulk noncancer stem cell populations within tumors or inhibit transitions from noncancer stem cell to cancer stem cell states.”

    The team claims their model could also be extended to other biological settings in which stochastic state transitions occur, either in normal or diseased contexts.

    Source: http://www.genengnews.com/gen-news-highlights/scientists-claim-differentiated-cancer-cells-can-convert-to-stem-like-cells-to-maintain-equilibrium/81245572/

Adding caffeine to sunscreen could guard against skin cancer

Scientists have worked out how caffeine might protect against certain skin cancers – a finding that could lead to better sunscreens.

The research, conducted in mice, suggests that caffeine changes the activity of a gene involved in the destruction of cells that have DNA damage and are therefore more likely to become cancerous. The scientists said this may lead to new ways of preventing skin cancer, though other experts cautioned that it did not mean coffee lovers were better protected against the disease.

Skin cancer is a common disease. According to Cancer Research UK, around 100,000 cases of non-melanoma were registered in the UK in 2008, and just under 12,000 cases of the more dangerous malignant melanoma. These cancers can be caused by over-exposure to ultraviolet light from the sun, which can damage the DNA of skin cells, leading to errors when the cells divide.

The overall protective role of caffeine against cancers has been noted in previous studies, but Allan Conney of the department of chemical biology at Rutgers University in New Jersey wanted to find the specific molecular mechanisms behind it. He suspected that the response might involve a gene called ATR, which is suppressed when caffeine molecules are around. This suppression encourages the death of DNA-damaged cells.

Conney tested the idea by creating genetically modified mice whose ATR genes were deficient and exposing them to ultraviolet light until they developed skin cancer. After 19 weeks of UV exposure, he found that these mice developed 69% fewer tumours than those that had fully functioning ATR genes. In addition, tumours in the GM mice developed three weeks later than in standard mice.

After 34 weeks of UV exposure, all the mice had developed tumours, mainly a type of non-melanoma cancer called squamous cell carcinoma (SCC). The results were published on Monday in the Proceedings of the National Academy of Sciences.

“All of this suggests the possibility that caffeine, possibly [applied to the skin], would have an inhibitory effect on sunlight-induced skin cancer,” said Conney. “In addition to the effects on the ATR pathway, caffeine also has sunscreening properties.”

SCCs are less common than the other type of non-melanoma cancer, called basal cell carcinomas, but it’s the former that are more dangerous. “People rarely die from basal cell carcinomas, but you need more invasive cutting to get it out,” said Conney. “There’s more disfiguration with basal cell than squamous cell. It’s the squamous cell cancers that can metastasise and are more dangerous.”

Jessica Harris, a health information manager at Cancer Research UK, pointed out that Conney’s study examined how caffeine affected genes when it was directly applied to the skin, rather than ingested. “It didn’t look at the effects of drinking coffee, so doesn’t tell us whether or not this could reduce the risk of skin cancer,” she said.

Studies looking at coffee consumption and cancer in large groups of people have provided mixed results, she added. “Some have found that coffee drinking may slightly reduce the risk of certain types of cancer, but the evidence is not yet strong enough to be certain, and these effects tend to be seen among people who drink very large amounts.”

The best way to reduce the risk of skin cancer, said Harris, “is to enjoy the sun safely, taking care not to burn by using a combination of shade, clothing and sunscreen.”

Dot Bennett, a professor of cell biology at St George’s, University of London, said that any move to add caffeine or related molecules to sunscreens should be undertaken with care. “First one might want to check there is no adverse effect of caffeine on the incidence of other cancers, especially melanoma (pigmented skin cancer), which kills over four times as many people as [squamous cell carcinoma]. But caffeine lotion might promote tanning a little, since this family of molecules stimulates pigment cells to make more pigment.”

Source: http://www.guardian.co.uk/science/2011/aug/15/adding-caffeine-sunscreen-skin-cancer

Five Genes May Be Tied to Lethal Prostate Cancer

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.

Click here to find out more!

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

MS genetic discovery casts doubt on vein theory

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

Genetic mutations cause schizophrenia

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

Genome Maps Solve Medical Mystery For Calif. Twins

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

Playing God; Is Genetic Testing The Answer To A More Pure Species?

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

qPCR – Quantitive Polymerase Chain Reaction & Transcriptional Profiling

With increasing applications in research to provide sensitive quantitative measurements of gene expression, including SNP genotyping, mutation detection and quantification, and gene dosage studies, quantitative polymerase chain reaction technology (qPCR) could soon be the standard for determining the genetic changes in response to a pharmacological agent.

Topic Overview

* Biomarkers clinic
* Increasing through-put
* Solid Phase Gene Expression
* Data Management
* Whole Genome Expression Profiling

Why should you attend this event?

With equipment improving all the time to offer high assay throughput and shorter assay times there has never been a better time to review existing technology, and how it can be applied to research & development in your organisation.

Unique in the market place, the inaugural SMi Quantitative Polymerase Chain Reaction (qPCR) & Transcriptional Profiling conference brings together industry leaders to discuss opportunities, advances in technology and time saving strategies.  The agenda is case study led, allowing delegates to benchmark their own research against that of their peers.

The qPCR and Transcriptional Profiling event is exclusively designed for the senior level practitioners from the world’s leading pharmaceutical and biotechnology companies.

This exclusive event consists of world-class keynote addresses, panel discussions and case-study sessions on all aspects of qPCR and Transcriptional Profiling, Biostatistics, increasing through-put, microarrays, microRNA expression and an exclusive Biomarkers Clinic!

Don’t miss out on this unique opportunity to increase your throughput, decrease costs and time and make your qPCR really work for you.  Can your company afford not to attend?

qPCR – Quantitive Polymerase Chain Reaction & Transcriptional Profiling

Tepnel Expands Genetic Services Portfolio with Addition of Illumina iScan Rapid Reader

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.