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New study reveals link between aristolochic acid and kidney cancer

A new study on a large cohort of kidney cancer patients in Europe sheds light on the genetic architecture of the disease -- and reveals an apparent link between exposure to aristolochic acid and incidence of kidney cancer, particularly in Romania.

29 Oct 2014

Genetic differences contribute to risk for autism

Small differences in as many as a thousand genes contribute to risk for autism, according to a study led by Mount Sinai researchers and the Autism Sequencing Consortium, and published today in the journal Nature.

29 Oct 2014

Researchers use DNA sequencing to uncover genes that heighten autism risk

In the largest study of its kind to date, researchers have used DNA sequencing to uncover dozens of genes that heighten the risk for autism. Joseph Buxbaum, Ph.D., Icahn School of Medicine at Mount Sinai, New York City, Mark Daly, Ph.D., Broad Institute of Harvard and MIT, and their colleagues examined more than 14,000 DNA samples from affected children, parents and unrelated people.

29 Oct 2014

Research breakthroughs may pave way for new drugs to fight against parasitic worm infections

Recent breakthroughs may pave the way for vaccines and new drugs for those infected by parasitic helminths. These flatworms, including tapeworms that cause hydatid diseases and neurocysticercosis, liver flukes, and blood flukes (schistosomes), infect more than 300 million people and cause approximately four million disability-adjusted life years lost due to chronic illness and death each year.

28 Oct 2014

Understanding of genomic landscape of thyroid cancer

A new comprehensive analysis of thyroid cancer from The Cancer Genome Atlas Research Network has identified markers of aggressive tumors, which could allow for better targeting of appropriate treatments to individual patients.

27 Oct 2014

RNF43 mutation may serve as biomarker that identifies colorectal, endometrial cancer patients

Scientists say they have identified in about 20 percent of colorectal and endometrial cancers a genetic mutation that had been overlooked in recent large, comprehensive gene searches. With this discovery, the altered gene, called RNF43, now ranks as one of the most common mutations in the two cancer types.

27 Oct 2014

UT Southwestern assistant professor named Moore Investigator in Data-Driven Discovery

Dr. Kimberly Reynolds, Assistant Professor in the Cecil H. and Ida Green Comprehensive Center for Molecular, Computational, and Systems Biology and in the Department of Biophysics at UT Southwestern Medical Center, has been named one of 14 Moore Investigators in Data-Driven Discovery.

27 Oct 2014

Study reveals subtypes, potential diagnostic and treatment clues for papillary thyroid carcinomas

A comprehensive analysis of the genomes of nearly 500 papillary thyroid carcinomas (PTC) – the most common form of thyroid cancer – has provided new insights into the roles of frequently mutated cancer genes and other genomic alterations that drive disease development.

25 Oct 2014

High risk for congenital heart defects in Down syndrome provides tool to identify changes in genes

Down syndrome is the most common chromosomal abnormality in humans, involving a third copy of all or part of chromosome 21. In addition to intellectual disability, individuals with Down syndrome have a high risk of congenital heart defects. However, not all people with Down syndrome have them – about half have structurally normal hearts.

25 Oct 2014

MIT researchers develop new way to model effects of cancer-causing genetic mutations

Sequencing the genomes of tumor cells has revealed thousands of genetic mutations linked with cancer. However, sifting through this deluge of information to figure out which of these mutations actually drive cancer growth has proven to be a tedious, time-consuming process.

24 Oct 2014

Longer looks: Obamacare in the midterm campaign; watching Ebola mutate; lessons on dying

According to Kantar Media, a firm that tracks political advertising, health care is the main subject of campaign ads, especially Republican ones. Obamacare is unpopular - over half of Americans disapprove of it. Republicans talk about it constantly on the campaign trail, though not as intemperately as they did during their own party's primaries. Democrats scarcely mention it (10/18).

24 Oct 2014

Scientists use innovative exome sequencing strategy to identify new gene associated with ALS

Using an innovative exome sequencing strategy, a team of international scientists led by John Landers, PhD, at the University of Massachusetts Medical School has shown that TUBA4A, the gene encoding the Tubulin Alpha 4A protein, is associated with familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder also known as Lou Gehrig's Disease.

23 Oct 2014

Study identifies new signaling pathway that leads to inflammatory bone erosion in RA patients

A new study by researchers at Hospital for Special Surgery identifies a new signaling pathway that contributes to the development and progression of inflammatory bone erosion, which occurs in patients with rheumatoid arthritis (RA). Rheumatoid arthritis is a systemic inflammatory autoimmune disease that affects millions of adults worldwide.

22 Oct 2014

Early access program for human chromosome mapping analytical service announced by Hitachi High-Technologies Corporation and OpGen

Hitachi High-Technologies Corporation and OpGen, Inc., a leading genetic analysis company, announced the introduction of an Early Access Program for its upcoming Human Chromosome ExplorerSM, human chromosome mapping analytical service for clinical research and life science research applications.

21 Oct 2014

The Jackson Laboratory gets $10M to build new center for genomics and computational biology

The Jackson Laboratory announced today that technology investor David Roux and his wife Barbara have gifted $10 million to support research and find cures for genetically based diseases.

21 Oct 2014

Cypher researchers identify new genetic cause of severe epileptic encephalopathy

Cypher Genomics, Inc., the genome informatics company, announced today the identification of de novo KCNB1 missense mutations as a novel genetic cause of severe epileptic encephalopathy. Cypher’s co-founder and Chief Scientific Officer Ali Torkamani, Ph.D. reviewed the data today at a platform presentation at the ASHG 2014 meeting being held October 18 to 22 in San Diego.

21 Oct 2014

Scientists identify potent inhibitors to combat common obesity gene

Individuals who are genetically predisposed to obesity may soon have a therapeutic solution to combat their condition. A research team led by scientists from the National University of Singapore (NUS) has identified several potent inhibitors that selectively target FTO, the common fat mass and obesity-associated gene.

21 Oct 2014

GENALICE launches all-in-one NGS data processing software solution, GENALICE MAP

Today, Dutch biomedical big data company GENALICE officially launched its all-in-one appliance for Next-Gen Sequencing (NGS) data processing, the GENALICE VAULT, at the annual conference of the American Society of Human Genetics.

20 Oct 2014

Study on blind cave fish could reveal mechanisms behind eye disease, other human ailments

Blind cave fish may not be the first thing that comes to mind when it comes to understanding human sight, but recent research indicates they may have quite a bit to teach us about the causes of many human ailments, including those that result in loss of sight.

20 Oct 2014

Researchers identify genetic variant in Latina women that protects against breast cancer

An international research collaboration led by UC San Francisco researchers has identified a genetic variant common in Latina women that protects against breast cancer.

20 Oct 2014

Genome News and Research

New study reveals link between aristolochic acid and kidney cancer

Genetic differences contribute to risk for autism

Researchers use DNA sequencing to uncover genes that heighten autism risk

Research breakthroughs may pave way for new drugs to fight against parasitic worm infections

Understanding of genomic landscape of thyroid cancer

RNF43 mutation may serve as biomarker that identifies colorectal, endometrial cancer patients

UT Southwestern assistant professor named Moore Investigator in Data-Driven Discovery

Study reveals subtypes, potential diagnostic and treatment clues for papillary thyroid carcinomas

High risk for congenital heart defects in Down syndrome provides tool to identify changes in genes

MIT researchers develop new way to model effects of cancer-causing genetic mutations

Longer looks: Obamacare in the midterm campaign; watching Ebola mutate; lessons on dying

Scientists use innovative exome sequencing strategy to identify new gene associated with ALS

Study identifies new signaling pathway that leads to inflammatory bone erosion in RA patients

Early access program for human chromosome mapping analytical service announced by Hitachi High-Technologies Corporation and OpGen

The Jackson Laboratory gets $10M to build new center for genomics and computational biology

Cypher researchers identify new genetic cause of severe epileptic encephalopathy

Scientists identify potent inhibitors to combat common obesity gene

GENALICE launches all-in-one NGS data processing software solution, GENALICE MAP

Study on blind cave fish could reveal mechanisms behind eye disease, other human ailments

Researchers identify genetic variant in Latina women that protects against breast cancer

The art of CRISPR: The power and promise of gene editing eBook

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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