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Research suggests common mechanism is associated with different human diseases

Inherited mutations in voltage-gated sodium channels (Navs) are associated with many different human diseases, including genetic forms of epilepsy and chronic pain. Theodore Cummins and colleagues, at Indiana University School of Medicine, Indianapolis, have now determined the functional consequence of three such mutations.

29 Dec 2009

Study suggests Fanconi Anemia and Bloom's Syndrome proteins may act in common DNA repair pathway

A new study establishes a molecular link that bridges two rare inherited disorders and explains why these diseases result in genetic instability. The research, published by Cell Press in the December 24th issue of the journal Molecular Cell, may lead to a better understanding of the complex mechanisms that enable cells to repair damaged DNA.

28 Dec 2009

Test tube experiments show slight changes in protein chemistry can eliminate Huntington's disease in mice

In Huntington's disease, a mutated protein in the body becomes toxic to brain cells. Recent studies have demonstrated that a small region adjacent to the mutated segment plays a major role in the toxicity. Two new studies supported by the National Institutes of Health show that very slight changes to this region can eliminate signs of Huntington's disease in mice.

28 Dec 2009

Study reveals genomic switches separate autoimmune disorders in different clusters

Genomic switches can predispose an individual to one set of autoimmune disorders but protect the same person against another set of them, scientists at Stanford University School of Medicine have found.

24 Dec 2009

Potential new therapeutic option for prevention of PD-associated neuropathology

Scientists have identified a synergistic interaction that disrupts normal intracellular transport mechanisms and leads to the accumulation of neuron-damaging clumps of protein associated with Parkinson's disease (PD), a neurodegenerative disorder that is characterized by a specific loss of neurons in the midbrain and brainstem. The research, published by Cell Press in the December 24 issue of the journal Neuron, identifies a new potential therapeutic option for preventing PD-associated neuropathology.

24 Dec 2009

Researchers unveil complete genetic make-up of cavity-causing bacterium

Researchers have uncovered the complete genetic make-up of the cavity-causing bacterium Bifidobacterium dentium Bd1, revealing the genetic adaptations that allow this microorganism to live and cause decay in the human oral cavity.

24 Dec 2009

New compound may halt drug-resistant lung cancer

The ability to make, test, and map the atomic structure of new anti-cancer agents has enabled a team of Dana-Farber Cancer Institute scientists to discover a compound capable of halting a common type of drug-resistant lung cancer.

24 Dec 2009

Achievements in lupus research, education and advocacy cause for celebration and hope

The year 2009 will be remembered as a year of many firsts for lupus, including the first successful phase III clinical trial of a potential new treatment for lupus, the launch of the first-ever Ad Council public awareness campaign for lupus, and the first comprehensive report on the barriers to lupus drug development. And it appears there are no signs of any slowing of momentum as we enter the New Year.

23 Dec 2009

Gene's role in immune system may suggest new treatments for childhood asthma

Pediatric researchers have identified a novel gene involved in childhood asthma, in one of the largest gene studies to date of the common respiratory disease. Because the gene, called DENND1B, affects cells and signaling molecules thought to be instrumental in the immune system overreaction that occurs in asthma, the discovery may have singled out an important target for new treatments.

23 Dec 2009

Special issue on climate justice highlights effects of global warming on human health

Global warming, pollution, and the environmental consequences of energy production impose a greater burden on low-income, disadvantaged communities, and strategies to prevent these inequities are urgently needed.

23 Dec 2009

National MS Society calls for grant applications to examine the impact of CCSVI hypothesis

2009 saw exciting research progress, unprecedented opportunities on the horizon, and more scientists than ever working on resolving important questions. Despite the year's economic and financial challenges, the National Multiple Sclerosis Society continues to propel research forward to end MS. In 2009 the Society provided over $33.5 million to support 345 new and ongoing projects in its research portfolio, plus $1.5 million for Fast Forward, the Society's drug development subsidiary which continues to attract new funding streams.

23 Dec 2009

Autism study and gene therapy in vision are top scientific achievements in 2009

A landmark autism study and a dramatic success for gene therapy in reversing inherited blindness, both at The Children's Hospital of Philadelphia, were recognized among the top scientific achievements in 2009, according to three national publications: Time magazine, Discover magazine and the journal Science.

23 Dec 2009

Older adults face higher risk of hospitalization for pneumonia when exposed to pollution

Older adults with long-term exposure to higher levels of pollution are at higher risk for hospitalization for pneumonia, according to researchers in Canada.

23 Dec 2009

Embryo biopsy safe for singleton pregnancies

The largest and longest running study of children born after preimplantation genetic diagnosis and screening has shown that embryo biopsy does not adversely affect the health of babies born as the result of a subsequent singleton pregnancy.

23 Dec 2009

NHLBI grant for identifying genetic and epigenetic causes of human congenital heart disease

Researchers at Children's Hospital Boston and Brigham and Women's Hospital have received funding from the National Heart, Lung, and Blood Institute (NHLBI) to support their search for undiscovered gene defects that cause congenital heart disease. The $4.19 million, 6-year grant is part of the Pediatric Cardiac Genomics Consortium (PCGC), which seeks to identify genetic and epigenetic causes of human congenital heart disease, and relate genetic variants present in the congenital heart disease patient population to clinical outcomes.

23 Dec 2009

Cardiac rehabilitation improves survival rate in heart attack patients

Medicare beneficiaries with heart disease who attended more cardiac rehabilitation sessions had fewer heart attacks and were less likely to die within four years than those who went to rehab less, researchers report in Circulation: Journal of the American Heart Association.

23 Dec 2009

New project analyzes genetic sequence and variations of every gene expressed by 1,000 tumors

No two tumors are alike, but analyzing the genetics of cancers from different parts of the body may reveal surprising details useful for treatment and prevention.

22 Dec 2009

Tel Aviv University's new Genome Analyzer fuels research dreams and tomorrow's cures

To identify the hemophilia mutation that affected Queen Victoria and her European relatives, scientific detectives used a cutting-edge "deep sequencing tool." Able to trace rare genetic disease mutations, the tool can turn a single laboratory into a fertile genetic research center.

22 Dec 2009

PTC Therapeutics completes $50M financing

PTC Therapeutics, Inc. (PTC) today announced the completion of a $50 million financing. The round was led by The Column Group - a new investor - and existing investor Delphi Ventures. The co-lead investors were joined by current investors Credit Suisse First Boston, HBM BioVentures, Novo A/S, Celgene, and other existing and new investors. In conjunction with the Delphi investment, general partner Deepa Pakianathan, Ph.D. will join PTC's Board of Directors.

22 Dec 2009

PGxHealth, DHZ announce collaboration in genetic variant study with response to clopidogrel

PGxHealth, a division of Clinical Data, Inc., today announced that it has established a research collaboration with Deutsches Herzzentrum (DHZ), Munich, Germany, to evaluate the predictive value of genetic markers, including PGxHealth proprietary markers, for response to clopidogrel (Plavix®).

22 Dec 2009

Genetic News and Research

Research suggests common mechanism is associated with different human diseases

Study suggests Fanconi Anemia and Bloom's Syndrome proteins may act in common DNA repair pathway

Test tube experiments show slight changes in protein chemistry can eliminate Huntington's disease in mice

Study reveals genomic switches separate autoimmune disorders in different clusters

Potential new therapeutic option for prevention of PD-associated neuropathology

Researchers unveil complete genetic make-up of cavity-causing bacterium

New compound may halt drug-resistant lung cancer

Achievements in lupus research, education and advocacy cause for celebration and hope

Gene's role in immune system may suggest new treatments for childhood asthma

Special issue on climate justice highlights effects of global warming on human health

National MS Society calls for grant applications to examine the impact of CCSVI hypothesis

Autism study and gene therapy in vision are top scientific achievements in 2009

Older adults face higher risk of hospitalization for pneumonia when exposed to pollution

Embryo biopsy safe for singleton pregnancies

NHLBI grant for identifying genetic and epigenetic causes of human congenital heart disease

Cardiac rehabilitation improves survival rate in heart attack patients

New project analyzes genetic sequence and variations of every gene expressed by 1,000 tumors

Tel Aviv University's new Genome Analyzer fuels research dreams and tomorrow's cures

PTC Therapeutics completes $50M financing

PGxHealth, DHZ announce collaboration in genetic variant study with response to clopidogrel

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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