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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

Whole exome sequencing can assist in early diagnosis of various disorders

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston.

20 Oct 2014

Genetic changes in blood cells of older people linked to lymphoma, leukemia

At least 2 percent of people over age 40 and 5 percent of people over 70 have mutations linked to leukemia and lymphoma in their blood cells, according to new research at Washington University School of Medicine in St. Louis.

20 Oct 2014

Genome Canada awards $6M grant to CAMH and Assurex Health

Assurex Health and Canada's Centre for Addiction and Mental Health (CAMH) today announced they have received a $6 million grant from Genome Canada, an agency of the Canadian government, to study the benefits of genetic testing to guide medication decisions for patients with depression or schizophrenia.

17 Oct 2014

Scientific insights into flu viruses must not give way to complacency, say researchers

As our ability to assess the pandemic risk from strains of influenza virus increases with the latest scientific developments, we must not allow ourselves to become complacent that the most substantial threats have been identified, argue an international consortium of scientists.

17 Oct 2014

New study to explore how NHS re-contacts patients with genetic information

A new study will be examining the implications of when and how NHS healthcare professionals re-contact patients with new genetic information that may impact their health or that of their family. The three year Economic and Social Research Council funded research will also explore issues of consent and how genetic information is stored.

16 Oct 2014

NIH presents 2014 New Innovator Award to Penn Medicine researcher

Roberto Bonasio, PhD, an assistant professor of Cell and Developmental Biology, Perelman School of Medicine at the University of Pennsylvania, and a core member of the Penn Epigenetics Program is one of the recipients of a 2014 New Innovator Award from the National Institutes of Health (NIH).

16 Oct 2014

New mutations in cat genome identified as causes of human eye diseases

Researchers from the University of Missouri and the 99 Lives Cat Genome Sequencing Initiative today announced groundbreaking discoveries of novel mutations in the cat genome found to correlate to two human eye diseases, retinitis pigmentosa and Leber's Congenital Amaurosis.

16 Oct 2014

NYSCF names six promising scientists as 2014 NYSCF – Robertson Investigators

The New York Stem Cell Foundation today named six of the most promising scientists as its 2014 NYSCF – Robertson Investigators.

15 Oct 2014

Genome News and Research

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

Whole exome sequencing can assist in early diagnosis of various disorders

Genetic changes in blood cells of older people linked to lymphoma, leukemia

Genome Canada awards $6M grant to CAMH and Assurex Health

Scientific insights into flu viruses must not give way to complacency, say researchers

New study to explore how NHS re-contacts patients with genetic information

NIH presents 2014 New Innovator Award to Penn Medicine researcher

New mutations in cat genome identified as causes of human eye diseases

NYSCF names six promising scientists as 2014 NYSCF – Robertson Investigators

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

Lab Matters host Harriet Gould on building a more connected lab community

The Critical Role of Sample Storage in Drug Discovery and Development

Advancing Neuroscience Research Through Collaboration and Patient-Centered Innovation

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