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Exome sequencing leads to correct diagnosis and life-saving treatment for mysterious genetic disorder

A genetic testing approach called exome sequencing—which provides a clinically practical alternative to whole-genome sequencing—led to correct diagnosis and life-saving treatment in a child with a previously unknown genetic disease, reports an upcoming paper in Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

21 Dec 2010

Brilinta – AstraZeneca’s new blood thinner faces FDA hurdle

AstraZeneca’s new blood thinner that was pitched against Plavix, the world’s second-best selling drug failed to live up to expectations making stocks drop to a two year low, the steepest decline since Nov. 21, 2008, and the worst performance today on the 18-company Bloomberg Europe Pharmaceutical Index.

20 Dec 2010

Spartan RX CYP2C19 DNA testing system receives European CE Mark certification

Spartan Bioscience Inc., a privately held molecular diagnostics company that develops, manufactures, and markets DNA testing systems for on-demand applications, today announced its Spartan RX CYP2C19 received a CE IVD Mark under the European Directive on In Vitro Diagnostic Medical Devices. The CE Mark certification allows commercial distribution in Europe as well as in all countries recognizing the CE Mark in the Middle East, Africa, Latin America, and Asia-Pacific regions.

20 Dec 2010

State Roundup: UMass bone marrow registry practices probed; Insurance woes hit many Calif. middle income families

Bone marrow registries are usually noble efforts to find donors with the right genetic match to save the life of a terminally ill person, but one such program in New England is under investigation by attorneys general in two states (Greenberg, 12/17).

20 Dec 2010

GSI scientists irradiate human tumor tissue to enhance ion beam therapy

Cancer treatment with ion beams developed at GSI is characterized by an excellent cure rate and only minor side effects. The therapy has been routinely in use for a little over one year.

20 Dec 2010

First Edition: December 17, 2010

Today's headlines highlight major health policy developments, including action in a Florida courtroom regarding the 20-state challenge to the health law and the Food and Drug Administration's curb on Avastin for the treatment of breast cancer.

17 Dec 2010

23andMe project aims at validating highly scalable pharmacogenomics research

23andMe has launched a project funded by the National Institutes of Health which is aimed at validating 23andMe's highly-scalable platform for pharmacogenomics research. The company received $190,000 in stimulus funding from the American Recovery and Reinvestment Act of 2009 for "Web-based Phenotyping for Genome-Wide Association Studies of Drug Response" from NIH's National Human Genome Research Institute.

17 Dec 2010

Researchers contribute important expertise to new landmark study of medulloblastoma

Pediatric cancer researchers at The Children's Hospital of Philadelphia contributed important expertise to a new landmark study of medulloblastoma, a type of brain tumor typically found in children. The large multicenter study defines the genetic landscape of this cancer, and holds intriguing clues to gene changes on signaling pathways that may become fruitful targets for future therapies.

17 Dec 2010

Gene variant affects brain function long before brain begins accumulating amyloid: Study

People with a known, high risk for Alzheimer's disease develop abnormal brain function even before the appearance of telltale amyloid plaques that are characteristic of the disease, according to a new study.

17 Dec 2010

'Histone code' needs to be used with caution

The function of histones -- the proteins that enable yards of DNA to be crammed into a single cell -- depends on a number of chemical tags adorning their exterior. This sophisticated chemical syntax for packaging DNA into tight little coils or unraveling it again -- called the "histone code" -- is the latest frontier for researchers bent on understanding how genetics encodes life.

17 Dec 2010

Whitehead Institute Founding Member named recipient of 2011 Warren Triennial Prize of MGH

Whitehead Institute Founding Member Rudolf Jaenisch has been named a recipient of the 2011 Warren Triennial Prize of Massachusetts General Hospital.

17 Dec 2010

Prions responsible for BSE can survive in new host environment

Scientists from the Florida campus of The Scripps Research Institute have shown that prions, bits of infectious protein that can cause fatal neurodegenerative disease such as bovine spongiform encephalopathy or "mad cow disease," have the ability to adapt to survive in a new host environment.

17 Dec 2010

MDA awards Repligen $1.4M for research of new compound with therapeutic potential for SMA

The Muscular Dystrophy Association today announced it has awarded $1.4 million in new research funding to the biopharmaceutical firm Repligen of Waltham, Mass., to complete the preclinical work needed to begin human clinical trials of a promising therapeutic compound for spinal muscular atrophy (SMA).

17 Dec 2010

Researchers discover new molecular mechanism of Alzheimer's disease through protein interaction

Through a complex analysis of protein interactions, researchers from IRB Barcelona and the Joint Programme IRB-BSC have discovered new molecular mechanisms that may be involved in the development of Alzheimer's disease.

17 Dec 2010

Pediatric cancer researchers study medulloblastoma for new treatment

Pediatric cancer researchers at The Children's Hospital of Philadelphia contributed important expertise to a new landmark study of medulloblastoma, a type of brain tumor typically found in children.

17 Dec 2010

Genetic biomarker linked to increased risk for breast cancer found in 'junk' DNA

A new genetic biomarker that indicates an increased risk for developing breast cancer can be found in an individual's "junk" (non-coding) DNA, according to a new study featuring work from researchers at the Virginia Bioinformatics Institute (VBI) at Virginia Tech and their colleagues.

17 Dec 2010

Scientists decipher genetic code for pediatric medulloblastoma

Scientists at the Johns Hopkins Kimmel Cancer Center have deciphered the genetic code for medulloblastoma, the most common pediatric brain cancer and a leading killer of children with cancer.

16 Dec 2010

Researchers begin placebo-controlled trial to test drug treatment for Rett syndrome

Researchers at Children's Hospital Boston have begun a randomized, placebo-controlled trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of autism in girls.

16 Dec 2010

Genetic breakthrough in lung cancer

For the study the team studied samples of lung tumors and nearby healthy lung tissue from 30 patients and examined the samples for the presence of messenger ribonucleic acid (mRNA) associated with 48 known genes for molecules called nuclear hormone receptors. Then they compared the active genes with patient outcomes and found that the expression of genes for certain nuclear hormone receptors helped predict patient survival.

16 Dec 2010

Gene variant linked to liver cirrhosis in Caucasians

A new study by German researchers found that a variation in the PNPLA3 (adiponutrin) gene was associated with cirrhosis of the liver and elevated transaminase (liver enzyme) levels in alcoholic Caucasians. The risk of cirrhosis in alcoholics in the genetic high risk group might be as high as 25 to 50%. Full findings are published in the January 2011 issue of Hepatology, a journal of the American Association for the Study of Liver Diseases.

16 Dec 2010

Genetic News and Research

Exome sequencing leads to correct diagnosis and life-saving treatment for mysterious genetic disorder

Brilinta – AstraZeneca’s new blood thinner faces FDA hurdle

Spartan RX CYP2C19 DNA testing system receives European CE Mark certification

State Roundup: UMass bone marrow registry practices probed; Insurance woes hit many Calif. middle income families

GSI scientists irradiate human tumor tissue to enhance ion beam therapy

First Edition: December 17, 2010

23andMe project aims at validating highly scalable pharmacogenomics research

Researchers contribute important expertise to new landmark study of medulloblastoma

Gene variant affects brain function long before brain begins accumulating amyloid: Study

'Histone code' needs to be used with caution

Whitehead Institute Founding Member named recipient of 2011 Warren Triennial Prize of MGH

Prions responsible for BSE can survive in new host environment

MDA awards Repligen $1.4M for research of new compound with therapeutic potential for SMA

Researchers discover new molecular mechanism of Alzheimer's disease through protein interaction

Pediatric cancer researchers study medulloblastoma for new treatment

Genetic biomarker linked to increased risk for breast cancer found in 'junk' DNA

Scientists decipher genetic code for pediatric medulloblastoma

Researchers begin placebo-controlled trial to test drug treatment for Rett syndrome

Genetic breakthrough in lung cancer

Gene variant linked to liver cirrhosis in Caucasians

eBook: Using iPSCs models for human disease research and drug discovery 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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