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Comprehensive collection of human genomic variants now available in Kaviar database

The Institute for Systems Biology (ISB) and the Inova Translational Medicine Institute (ITMI) announced today a new release of Kaviar, the most comprehensive collection of human genomic variants currently available to the public.

26 Sep 2015

Researchers identify new biochemical pathway that could be a potential target for insulin control

In the final event leading to the development of Type 2 diabetes, the pancreas loses its ability to secrete insulin and clear glucose from the blood. Preventing this breakdown in insulin secretion is a key goal in the fight to reduce the burden of a disease that afflicts an estimated 29 million people in the United States.

25 Sep 2015

NanoString announces key initiatives to expand market for nCounter Analysis System, related product portfolio

At a meeting with analysts and investors today, members of the senior management team of NanoString Technologies, Inc., a provider of life science tools for translational research and molecular diagnostic products, plan to unveil the company’s strategic roadmap to drive continued growth and expand the market for its nCounter Analysis System and the related product portfolio.

From NanoString Technologies 14 Sep 2015

First ever SNP array optimized for Japanese population

A research group, led by Professor Masao Nagasaki and Senior Assistant Professor Yosuke Kawai at Tohoku University Tohoku Medical Megabank Organization, has successfully designed the first ever SNP array that has been optimized for the Japanese population.

3 Sep 2015

Gene linked to sudden cardiac death in general population identified using ICD monitoring

A gene associated with sudden cardiac death in the general population has been identified using implantable cardioverter defibrillator (ICD) monitoring in research presented for the first time at ESC Congress today.

1 Sep 2015

Pitt researchers identify molecular mechanisms behind resilience to tinnitus, possible drug therapy

Researchers have identified in an animal model the molecular mechanisms behind resilience to noise-induced tinnitus and a possible drug therapy that could reduce susceptibility to this chronic and sometimes debilitating condition. The findings by a team from the University of Pittsburgh School of Medicine were published online in the journal eLife.

28 Aug 2015

Researchers uncover genetic circuit involved in obesity

Like many other conditions, obesity is caused by an interplay between genetic and environmental factors. While efforts to combat the obesity epidemic will need to include changes in diet and exercise, insights into the genes involved may also help with prevention and treatment.

20 Aug 2015

Study shows how genetic changes lead to differences in form and function of species

Ten thousand years ago, a golden grain got naked, brought people together and grew to become one of the top agricultural commodities on the planet.

30 Jul 2015

Researchers develop diagnostic test to detect enterovirus D68

Researchers at Washington University School of Medicine in St. Louis have developed a diagnostic test to quickly detect enterovirus D68 (EV-D68), a respiratory virus that caused unusually severe illness in children last year. The outbreak caused infections at an unprecedented rate, with over 1,000 confirmed cases and 14 reported deaths nationwide, according to the Centers for Disease Control and Prevention.

23 Jul 2015

Drug addiction expert uncovers molecular mechanisms that contribute to addiction resistance

Growing up in West Virginia, Jill Turner saw firsthand the kind of havoc that drug addiction can wreak. "I had a lot of friends who had very promising lives and promising careers ahead of them," the assistant professor in the South Carolina College of Pharmacy says, "but they ended up either overdosing or going to jail for drug-related stuff. It's one of the reasons I went into drug addiction research."

22 Jul 2015

Scientists find potent agent that thwarts drug resistance in malaria parasite

Scientists have made an important breakthrough in the fight against malaria, identifying a potent agent that thwarts drug resistance in the parasite that causes the disease.

20 Jul 2015

Type 2 diabetes patients with specific genetic markers at higher risk of developing Alzheimer's disease

Certain patients with type 2 diabetes (T2D) may have specific genetic risk factors that put them at higher risk for developing Alzheimer's disease (AD), according to a study conducted at the Icahn School of Medicine at Mount Sinai and published recently in Molecular Aspects of Medicine.

17 Jul 2015

New drug DSM265 shows potential to cure, prevent malaria

Researchers at UT Southwestern Medical Center and in Australia have shown that a drug currently in testing shows potential to cure malaria in a single dose and offers promise as a preventive treatment as well.

16 Jul 2015

Penn study suggests future precision medicine approach to treating diabetes, other metabolic disorders

In the first study of its kind, Penn researchers have shown how an anti-diabetic drug can have variable effects depending on small natural differences in DNA sequence between individuals. Mitchell Lazar, MD, PhD, Raymond Soccio, MD, PhD, and colleagues at the Perelman School of Medicine at the University of Pennsylvania, aim to apply this knowledge to develop personalized approaches to treating diabetes and other metabolic disorders.

3 Jul 2015

Ledipasvir/sofosbuvir combination approved for hepatitis C treatment does not require antiviral drug

The drug approved to treat patients infected with the hepatitis C virus needs no help from other antivirals, according to a study released online this week in the journal Hepatology.

2 Jul 2015

Scientists develop high-throughput strategy to build de novo genomes

Scientists from the Icahn School of Medicine at Mount Sinai have developed a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping. The methodology enabled researchers to detect complex forms of genomic variation, critically important for their association with human disease, but previously difficult to detect.

30 Jun 2015

Scientists examine rates of secondary mutations in biomarker genes

Many tests for predictive biomarkers in tumors focus on selected known mutations or regions (e.g. hotspot panels). In a new study, scientists at Molecular Health examined the rates of secondary mutations in known biomarker genes and their potential impact on the diagnostic reliability of specific single-nucleotide variant (SNV) biomarker testing.

29 Jun 2015

Scientists develop new technique to analyze bacterial populations

Scientists from the Icahn School of Medicine at Mount Sinai have developed a new technique to more precisely analyze bacterial populations, to reveal epigenetic mechanisms that can drive virulence. The new methods hold the promise of a potent new tool to offset the growing challenge of antibiotic resistance by bacterial pathogens.

16 Jun 2015

SNPs predict sunitinib outcome in mRCC

Research has confirmed that single nucleotide polymorphisms in genes related to the processing of sunitinib influence the outcome of treatment for metastatic renal cell carcinoma.

29 May 2015

Panorama SNP-based non-invasive prenatal test can detect complete molar pregnancy

Natera, Inc., a leader in non-invasive genetic testing, today announced a study published in Ultrasound in Obstetrics & Gynecology demonstrating that the Panorama single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) can identify a complete molar pregnancy in the first trimester.

From Natera 28 May 2015