May 17, 2013, Shenzhen, China---- Why Tibetan antelope can live at elevations of 4,000-5,000m on the Qinghai-Tibetan Plateau? In a collaborative research published in Nature Communications, investigators from Qinghai University, BGI, and other institutes provide evidence that some genetic factors may be associated with the species' adaption to harsh highland environments. The data in this work will also provide implications for studying specific genetic mechanisms and the biology of other ruminant species.

A new genome-wide association study of more than 6,000 people has identified seven new genetic regions associated with pulmonary fibrosis. In findings published online in Nature Genetics on April 14, 2013, researchers at National Jewish Health, the University of Colorado and several other institutions found a number of genes associated with host defense, cell-cell adhesion and DNA repair, which provide clues to possible mechanisms underlying this currently untreatable disease.

New study applies quantitative modeling to genomics

BOSTON – Genomic research is widely expected to transform medicine, but progress has been slower than expected. While critics argue that the genomics "promise" has been broken – and that money might be better spent elsewhere -- proponents say the deliberate pace underscores the complexity of the relationship between medicine and disease and, indeed, argues for more funding.

Researchers at The Children's Hospital of Philadelphia part of a large international study

An international team of genetics researchers has discovered four new gene regions that contribute to low birth weight. Three of those regions influence adult metabolism, and appear to affect longer-term outcomes such as adult height, risk of type 2 diabetes and adult blood pressure.

The prevailing wisdom has been that every cell in the body contains identical DNA. However, a new study of stem cells derived from the skin has found that genetic variations are widespread in the body's tissues, a finding with profound implications for genetic screening, according to Yale School of Medicine researchers.

Researchers at the RIKEN Center for Genomic Medicine (CGM) and their colleagues have identified 8 new loci associated with susceptibility to atopic dermatitis in the Japanese population. The findings, which appear in the journal Nature Genetics, advance our understanding of the genetic basis of the skin disorder, which affects millions of children and adults around the world.

Researchers find new risk regions associated with primary biliary cirrhosis

Researchers have newly identified three genetic regions associated with primary biliary cirrhosis (PBC), the most common autoimmune liver disease, increasing the number of known regions associated with the disorder to 25.

ALS discovery points to new pathways and potential treatment strategy

WORCESTER, MA — A team of scientists, including faculty at the University of Massachusetts Medical School (UMMS), have discovered a gene that influences survival time in amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease). The study, published today in Nature Medicine, describes how the loss of activity of a receptor called EphA4 substantially extends the lifespan of people with the disease. When coupled with a UMMS study published last month in Nature identifying a new ALS gene (profilin-1) that also works in conjunction with EphA4, these findings point to a new molecular pathway in neurons that is directly related to ALS susceptibility and severity.

BOSTON (July 29, 2012) – Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1. Finding the specific gene mutated in patients with LCA is the first step towards developing sight-saving gene therapy.

July 16, 2012 – Your genes determine much about you, but environment can have a strong influence on your genes even before birth, with consequences that can last a lifetime. In a study published online in Genome Research (www.genome.org), researchers have for the first time shown that the environment experienced in the womb defines the newborn epigenetic profile, the chemical modifications to DNA we are born with, that could have implications for disease risk later in life.