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Chemical changes in genetic material regulate activity of many genes

Chemical changes in the genetic material, known as epigenetic modifications, regulate the activity of many genes. Thus, attachment of methyl groups to DNA often inactivates important cellular growth brakes. Therefore, this process called methylation is believed to be a major cause of uncontrolled division of cancer cells. Specific enzymes, the DNA methyltransferases, are responsible for methylation.

7 May 2010

Fragile X syndrome iPS cells and embryonic stem cells behave differently: Study

In the last three years, a new technique for reprogramming adult cells has given scientists an easier and less controversial way to harness the power of embryonic-like stem cells to study human disease from its earliest beginnings in hopes of gleaning new insights into the root causes of disease and developing new therapies.

7 May 2010

Gene patenting policies affect patient access to testing for disease-causing genes: Study

Policies allowing genes to be patented can make it more difficult for patients to access testing for important disease-causing gene mutations, according to a series of papers in a special online supplement published by Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

7 May 2010

Ohio scientists demonstrate existence of effective technology for nationwide newborn screening of SMA

Scientists in Ohio studying Spinal Muscular Atrophy (SMA) have concluded that the technology now exists to carry out nationwide screening of newborn children and pregnant mothers. The study, published in the American Journal of Medical Genetics, reveals that effective screening may allow parents to find proactive treatments before the symptoms become irreversible.

7 May 2010

Advances in genetic research could help develop personalized pain medications

In the not too distant future, it may be possible to discern an individual's genetic predisposition to chronic pain conditions and treat them proactively to prevent lifetime afflictions, according to research presented today at the American Pain Society's (www.ampainsoc.org) annual scientific meeting.

7 May 2010

Neuroscientist Snyder presents annual Ellis S. Grollman Lecture at UMB

If a drug was developed to block a key protein linked to the onset of Huntington's Disease, it could have a clear path to the part of the brain most affected by the disease, while not bothering other parts of the brain and body, said distinguished neuroscientist Solomon H. Snyder, MD, to an audience of about 300 students and faculty at the University of Maryland, Baltimore (UMB).

6 May 2010

Researchers to identify rare genetic mutation to produce histamine against TS

A single, very unusual family with Tourette syndrome has led Yale School of Medicine researchers to identify a rare mutation in a gene that is required to produce histamine. The finding provides a new framework to understand many years of data on the role of histamine function in the brain and points to a potentially novel approach to treatment of tics and Tourette.

6 May 2010

Genomic Health reports 22% revenue growth, 58% decrease in net loss for first-quarter 2010

Genomic Health, Inc. today reported financial results and business progress for the quarter ended March 31, 2010.

6 May 2010

Researchers discover link between sporadic and familial forms of ALS

Researchers from Northwestern University Feinberg School of Medicine have discovered a link between sporadic and familial forms of amyotrophic lateral sclerosis, a neurodegenerative disease also known as Lou Gehrig's disease.

6 May 2010

SAEC, Cerner collaborate to identify genetic markers associated with drug-related SAEs

The International Serious Adverse Events Consortium (SAEC) announced today that Cerner Corporation will collaborate with this novel, international research consortium, which is working to identify genetic markers that may help predict which individuals are at risk for a range of serious drug-related adverse events (SAEs). Researchers collaborating with the SAEC will use Cerner Discovere-, Cerner's web-based research platform, to gather data for studies that focus on two SAEs: liver injury and hypersensitivity reactions.

6 May 2010

Genetics researchers use new approach to detect causal gene variants

In findings that may speed the search for disease-causing genes, a new study challenges the prevailing view that common diseases are usually caused by common gene variants (mutations). Instead, say genetics researchers, the culprits may be numerous rare variants, located in DNA sequences farther away from the original "hot spots" than scientists have been accustomed to look.

5 May 2010

Physically active lifestyle during adolescence can reduce effect of mutation in FTO gene: Study

The FTO gene is obesity's main ally. Several studies are now attempting to reveal the factors that play a key role in fighting against it. A new study led by Spanish researchers shows that a physically active lifestyle during adolescence can reduce the effect of a mutation in this gene which predisposes someone to becoming overweight or obese.

5 May 2010

Medication used to treat heart arrhythmias also reduces myotonic dystrophy: Researchers

A medication most often used to treat heart arrhythmias also reduces a central symptom of myotonic dystrophy, the most common type of muscular dystrophy in adults.

5 May 2010

S*BIO, Onyx Pharmaceuticals expand development, commercialization collaboration for JAK2 Inhibitors

S*BIO Pte Ltd and Onyx Pharmaceuticals, Inc. today announced the expansion of their development collaboration and option and license commercialization agreement for S*BIO's novel JAK2 inhibitors, SB1518 and SB1578, also known as ONX 0803 and ONX 0805, respectively. The expanded agreement builds upon the development and commercialization collaboration between the two companies announced in January 2009.

5 May 2010

Results from STEALTH C-3 clinical trial of nitazoxanide presented at DDW 2010

Romark Laboratories announced results from its STEALTH C-3 clinical trial, a phase 2 clinical study of nitazoxanide in treatment-naive patients with genotype 1 chronic hepatitis C. Study results were presented this afternoon as an oral communication at a late breaking forum of the American Gastroenterological Association Institute during Digestive Disease Week 2010 in New Orleans, Louisiana.

5 May 2010

Approval of personalized therapy for lung cancer in Europe will change way of treatment

The recent approval of Europe's first personalized treatment for lung cancer heralds the arrival of a new era for lung cancer treatment that will demand significant changes to the way cancer specialists and other hospital doctors work, a leading expert said today at the 2nd European Lung Cancer Conference in Geneva, Switzerland.

4 May 2010

Novel biomarker test predicts risk of disease progression in patients with Crohn's disease

Prometheus Laboratories Inc., a specialty pharmaceutical and diagnostic company, announced new findings supporting a novel, algorithm-based biomarker test that helps clinicians effectively predict the risk of developing aggressive disease in patients with Crohn's disease.

4 May 2010

Deficiency of frataxin protein causes Friedreich's ataxia

The defective gene responsible for Friedreich's ataxia was identified over 20 years ago, but so far our ideas of how this gene causes the disease have been merely speculative. It was assumed that, as a result of the mutation, the gene could no longer be transcribed because this stretch of DNA was inaccessible. FMI Group Leader Marc Bühler and his team have now carried out experiments demonstrating that this is not the case and revealing what actually happens in Friedreich's ataxia.

4 May 2010

UCSF transgenic mouse model first to display earliest signs of Parkinson's disease

UCSF researchers have created the first transgenic mouse to display the earliest signs of Parkinson's disease using the genetic mutation that is known to accompany human forms of the disease.

4 May 2010

New data on salt-sensitive hypertension to be presented at ASH 2010 conference

With governmental authorities, academicians, healthcare providers and industry grappling with the level of salt in the diet in an effort to reduce its impact on high blood pressure, new data evaluating a potential genetic component to salt-sensitive hypertension will be presented at the American Society of Hypertension, Inc.'s 25th Annual Scientific Meeting and Exposition (ASH 2010).

4 May 2010

Mutation News and Research

Chemical changes in genetic material regulate activity of many genes

Fragile X syndrome iPS cells and embryonic stem cells behave differently: Study

Gene patenting policies affect patient access to testing for disease-causing genes: Study

Ohio scientists demonstrate existence of effective technology for nationwide newborn screening of SMA

Advances in genetic research could help develop personalized pain medications

Neuroscientist Snyder presents annual Ellis S. Grollman Lecture at UMB

Researchers to identify rare genetic mutation to produce histamine against TS

Genomic Health reports 22% revenue growth, 58% decrease in net loss for first-quarter 2010

Researchers discover link between sporadic and familial forms of ALS

SAEC, Cerner collaborate to identify genetic markers associated with drug-related SAEs

Genetics researchers use new approach to detect causal gene variants

Physically active lifestyle during adolescence can reduce effect of mutation in FTO gene: Study

Medication used to treat heart arrhythmias also reduces myotonic dystrophy: Researchers

S*BIO, Onyx Pharmaceuticals expand development, commercialization collaboration for JAK2 Inhibitors

Results from STEALTH C-3 clinical trial of nitazoxanide presented at DDW 2010

Approval of personalized therapy for lung cancer in Europe will change way of treatment

Novel biomarker test predicts risk of disease progression in patients with Crohn's disease

Deficiency of frataxin protein causes Friedreich's ataxia

UCSF transgenic mouse model first to display earliest signs of Parkinson's disease

New data on salt-sensitive hypertension to be presented at ASH 2010 conference

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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