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Researchers discover genetic variant that raises risk of CHD

Although congenital heart disease represents the most common major birth defect, scientists have not previously identified the common variation in the genes that give rise to it. Now genetics and cardiology researchers, two of them brothers, have discovered a genetic variant on chromosome 5 that strongly raises the risk of congenital heart disease.

27 May 2010

Mount Sinai School of Medicine deploys Isilon scale-out NAS for DNA sequencing and analysis workflow

Isilon® Systems today announced that Mount Sinai School of Medicine's Genomics Institute and Department of Genetics and Genomic Sciences has deployed Isilon scale-out NAS as the primary repository for its next-generation DNA sequencing and analysis workflow.

27 May 2010

New study holds promise for patients with LCA

A new study led by Dr. Robert Koenekoop at the Montreal Children's Hospital at the McGill University Health Centre holds promise for certain patients with Leber congenital amaurosis, an inherited retinal degenerative disease that causes significant vision loss from birth. The study, sponsored by Canadian company QLT Inc., is designed to treat patients with LCA due to genetic mutations in either retinal pigment epithelium protein 65 or lecithin:retinol acyltransferase.

27 May 2010

UCSF research shows brief exercise buffers the effects of stress-induced cell aging

Exercise can buffer the effects of stress-induced cell aging, according to new research from UCSF that revealed actual benefits of physical activity at the cellular level.

27 May 2010

Nottingham scientists given green light to test new vaccine for malignant melanoma

Nottingham scientists have been given the green light to test a vaccine which they hope could reverse, and even cure malignant melanoma, the most deadly type of skin cancer.

27 May 2010

Drug and dosage influence risk of GI bleeding

A study conducted at the Spanish Centre for Pharmacoepidemiological Research revealed that the risk of gastrointestinal complications due to nonsteroidal anti-inflammatory drug (NSAID) use varies by specific NSAID administered and by dosage. The study further determined that NSAIDs with a long half-life or slow-release formulation are associated with a greater risk of GI bleeding or perforation.

27 May 2010

Bacteria may play wider role in people predisposed to obesity: Researchers

Bacteria may play more of a role in people predisposed to obesity than previously thought, according to studies presented today by University of Maryland School of Medicine researchers at the 110th general meeting of the American Society for Microbiology in San Diego.

27 May 2010

Researchers report key cellular pathway in deadly brain cancer malignant glioma

Researchers at the University of Massachusetts Medical School report in the journal Nature Medicine on a cellular pathway in the deadly brain cancer malignant glioma, a pathway essential to the cancer's ability to grow - and a potential target for therapy that would stop the cancer's ability to thrive.

26 May 2010

Good number of natural bypass vessels an 'insurance policy' against blockage

When the arteries delivering oxygen to our vital organs are obstructed by atherosclerosis or clots, the result is almost always a stroke, heart attack or damage to a peripheral tissue such as the legs (peripheral artery disease). But the severity of tissue injury or destruction from a choked-off blood supply varies from person to person, and may depend in large part on whose circulatory system has the best back-up plan to provide alternate routes of circulation.

26 May 2010

Researchers discover gene mutations in autistic, mentally impaired patients

Researchers working with Professor Gudrun Rappold, Director of the Department of Molecular Human Genetics at Heidelberg University Hospital, have discovered previously unknown mutations in autistic and mentally impaired patients in what is known as the SHANK2 gene, a gene that is partially responsible for linking nerve cells.

26 May 2010

Highlights from June 2010 issue of American Journal of Pathology

Dr. Kanneboyina Nagaraju and colleagues at the Children's National Medical Center, Washington, DC demonstrate that affected muscle may directly contribute to inflammation in muscular dystrophy. Their report can be found in the June 2010 issue of The American Journal of Pathology.

26 May 2010

SCID added to the core panel of 29 genetic disorders

On May 21, 2010, Kathleen Sebelius, Secretary of Health and Human Services announced the addition of Severe Combined Immunodeficiency -- commonly known as bubble boy disease -- to the core panel of 29 genetic disorders -- as part of her recommendation to adopt the national Recommended Uniform Screening Panel.

26 May 2010

Research findings on pediatric ILD published online in PED

An insightful and in-depth presentation of the most up-to-date clinical and research findings and historical perspectives on pediatric interstitial lung disease is presented in a special issue published online ahead of print in Pediatric Allergy, Immunology, and Pulmonology, a peer-reviewed journal published by Mary Ann Liebert, Inc.

26 May 2010

NIDDK awards Albert Einstein College of Medicine $9.5M for continuation of Diabetes Research and Training Center

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health (NIH) has awarded Albert Einstein College of Medicine of Yeshiva University a five-year, $9.5 million grant for the continuation of its Diabetes Research and Training Center (DRTC). The DRTC was also awarded a $632,000 supplemental grant for equipment and additional pilot and feasibility studies through the American Recovery and Reinvestment Act (ARRA), bringing total NIH support to $10,177,000.

26 May 2010

HDL cholesterol can transform from good to bad actor in heart-disease process

We've all heard about the importance of raising HDL, or the so-called "good" cholesterol, and lowering LDL, or "bad" cholesterol, to improve heart health. While we've come to assume HDL cholesterol is an inherently good thing, a new study shows that for a certain group of patients, this is not always the case. The study is the first to find that a high level of the supposedly good cholesterol places a subgroup of patients at high risk for recurrent coronary events, such as chest pain, heart attack, and death.

26 May 2010

QIAGEN acquires rights to 70 molecular food safety tests developed by Institute for Product Quality

QIAGEN today announced that it has entered into an agreement with the Institute for Product Quality (ifp), pursuant to which QIAGEN has acquired all rights to 70 molecular food safety tests developed by the Berlin-based specialized laboratory center for food analysis.

From QIAGEN Manchester Limited 26 May 2010

Lumizyme receives FDA approval for patients with late-onset Pompe disease

The U.S. Food and Drug Administration approved Lumizyme (alglucosidase alfa) for patients ages 8 years and older with late-onset (non-infantile) Pompe disease, a rare genetic disorder.

26 May 2010

Genzyme signs consent decree of permanent injunction, agrees to disgorgement

Genzyme Corp. has signed a consent decree agreeing to correct manufacturing quality violations at its Allston, Mass., manufacturing facility and will turn over to the federal government $175 million in unlawful profits from the sale of products that were made at the plant, the U.S. Food and Drug Administration announced today.

25 May 2010

Researchers use zebrafish as model to analyze function of every known mutation in BBS

A research team led by scientists from the Duke University Medical Center has developed a way to simultaneously look at the effects of 125 mutations occurring on 14 different genes. They used zebrafish as a model to analyze the function of every known mutation in an inherited syndrome called BBS, Bardet-Biedl Syndrome.

25 May 2010

Positive results from Phase 2 clinical trial for STA-9090 in Stage IIIB and Stage IV patients with NSCLC

Synta Pharmaceuticals Corp. today announced that clinical activity seen in the first stage of its trial for STA-9090 in Stage IIIB and Stage IV patients with non-small cell lung cancer, support advancing to the second stage of the trial. This result was achieved in the first pre-defined patient cohort to complete enrollment.

25 May 2010