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Researchers uncover exact function of LARGE enzyme linked with MD

Researchers at the University of Iowa have worked out the exact function of an enzyme that is critical for normal muscle structure and is involved in several muscular dystrophies. The findings, which were published Jan. 6 in the journal Science,, could be used to develop rapid, large-scale testing of potential muscular dystrophy therapies.

10 Jan 2012

Progress report on commercialization of BENLYSTA to be announced at JPMorgan Healthcare Conference

Human Genome Sciences, Inc. will today announce its priority goals for 2012 and report on progress with the commercialization of BENLYSTA (belimumab), the first approved drug for systemic lupus in 56 years, during a presentation this afternoon by H. Thomas Watkins, President and Chief Executive Officer, to financial analysts and investors at the 30th Annual JPMorgan Healthcare Conference in San Francisco.

9 Jan 2012

TRON uses Ingenuity Variant Analysis to identify cancer driver variants

Ingenuity Systems, a leading provider of information and analysis solutions for life science researchers, today announced that TRON has used Ingenuity Variant Analysis to identify cancer driver variants that inform the development of an experimental individualized RNA-based therapeutic.

9 Jan 2012

Scientists identify key tumorigenic pathways in never-smoker lung adenocarcinoma patients

Researchers at the Translational Genomics Research Institute (TGen) have begun to identify mutations and cellular pathway changes that lead to lung cancer in never-smokers - a first step in developing potential therapeutic targets.

9 Jan 2012

Studies identify genes and small molecules against protein conformational diseases

Two related studies from Northwestern University offer new strategies for tackling the challenges of preventing and treating diseases of protein folding, such as Alzheimer's, Parkinson's and Huntington's diseases, amyotrophic lateral sclerosis (ALS), cancer, cystic fibrosis and type 2 diabetes.

7 Jan 2012

Amyloid precursor protein fragment may be a biomarker for autism

Immune system abnormalities that mimic those seen with autism spectrum disorders have been linked to the amyloid precursor protein (APP), reports a research team from the University of South Florida's Department of Psychiatry and the Silver Child Development Center.

4 Jan 2012

Genomic architecture predisposes supercentenarians to age-related diseases

The first-ever published whole-genome sequences of not just one, but two supercentenarians, aged more than 114 years, reveal that both unusual and common genetic phenomena contribute to the genetic background of extreme human longevity.

4 Jan 2012

Researchers identify candidate genes for histiocytoid cardiomyopathy

Researchers are closing in on a rare genetic disorder causing a heart condition in infants. Histiocytoid cardiomyopathy (HC) often causes sudden death before a child reaches 2 years of age. Gene analysis is helping to narrow the many theories surrounding the genetic basis of HC.

4 Jan 2012

Researchers identify gene required for proper development of mouse inner ear

Providing clues to deafness, researchers at Washington University School of Medicine in St. Louis have identified a gene that is required for proper development of the mouse inner ear.

4 Jan 2012

Mitochondrial dysfunction in tissue stem cells can cause aging-associated degeneration

Aging-related tissue degeneration can be caused by mitochondrial dysfunction in tissue stem cells. The research group of Professor Anu Suomalainen Wartiovaara at the University of Helsinki, with their collaborators in Max Planck Institute for Biology of Aging, Karolinska Institutet and University of Wisconsin, reported on the 3rd January in Cell Metabolism their results on mechanisms of aging-associated degeneration.

4 Jan 2012

Scientists show how HCV virus hijacks miR-122 in liver cells

Viral diseases are still one of the biggest challenges to medical science. Thanks to thousands of years of co-evolution with humans, their ability to harness the biology of their human hosts to survive and thrive makes them very difficult to target with medical treatment.

2 Jan 2012

Soon therapies may be guided by genetic blueprints

In a futuristic bid the doctors have drawn up plans to sequence the full genetic code of thousands of people in a landmark project to personalize their medical care. Each person will have all 6 billion letters of their genome read, stored and linked to their medical records to help doctors prescribe more effective drugs and other therapies.

1 Jan 2012

Four-year effort to map genetic code of 1,000 African-Americans

A Johns Hopkins-led team of experts in genetics, immunology, epidemiology and allergic disease has embarked on a four-year effort to map the genetic code, or whole genome, of 1,000 people of African descent, including men and women from Baltimore.

30 Dec 2011

ATM gene mutations may increase hereditary risk for pancreatic cancer

Mutations in the ATM gene may increase the hereditary risk for pancreatic cancer, according to data published in Cancer Discovery, the newest journal of the American Association for Cancer Research.

30 Dec 2011

Research provides first proof of epigenetic risk factor for type 2 diabetes

Research carried out at the Hebrew University of Jerusalem has provided the first proof of molecular risk factors leading to type 2 diabetes, providing an "early warning" sign that could lead to new approaches to treating this and other human disease conditions.

28 Dec 2011

LincRNAs play key roles during embryonic brain development

Whitehead Institute scientists have identified conserved, long intervening non-coding RNAs (lincRNAs) that play key roles during embryonic brain development in zebrafish. They also show that the human versions of the lincRNAs can substitute for the zebrafish versions, which implies that the functions of these non-coding RNAs have been retained in humans as well as fish.

23 Dec 2011

Researchers present results from 31 major studies of blood-related cancers at ASH 2011 meeting

Researchers from the John Theurer Cancer Center at Hackensack University Medical Center, one of the nation's top 50 best hospitals for cancer, presented results from 31 major studies of blood-related cancers - leukemia, lymphoma and multiple myeloma -- during the American Society of Hematology (ASH) Annual Meeting, December 10-13, 2011 in San Diego.

23 Dec 2011

Researchers identify previously unknown gene fusion event in lung cancer

Smoking is a well-known risk factor for lung cancer, but nearly 25% of all lung cancer patients have never smoked. In a study published online today in Genome Research, researchers have identified a previously unknown gene fusion event that could explain a significant proportion of lung cancer cases in never-smokers, and might serve as a target for new therapies.

23 Dec 2011

New way to awaken paternal Ube3a allele linked with Angelman syndrome

Results of a new study from the University of North Carolina at Chapel Hill may help pave the way to a treatment for a neurogenetic disorder often misdiagnosed as cerebral palsy or autism.

22 Dec 2011

Researchers map every apparent physical interaction of HIV virus with human cells

In perhaps the most comprehensive survey of the inner workings of HIV, an international team of scientists led by researchers at the University of California, San Francisco has mapped every apparent physical interaction the virus makes with components of the human cells it infects—work that may reveal new ways to design future HIV/AIDS drugs.

22 Dec 2011