Mutations in a gene may cause poor lung development in children, making them more vulnerable to diseases such as chronic obstructive pulmonary disease (COPD) later in life, say researchers at the University of Pittsburgh Graduate School of Public Health and the German Research Center for Environmental Health.

Research that has discovered a new gene whose mutations cause 5 percent of inherited cases of ALS (amyotrophic lateral sclerosis) is part of a national study led by the Northwestern University Feinberg School of Medicine.

Screening for mutations in a gene that helps the body metabolize a kidney transplant anti-rejection drug may predict which children are at higher risk for side effects, including compromised white blood cell count or organ rejection, according to new research.

1 in 200 of our human genes can be inactivated with no detectable effect on our health. A study by Wellcome Trust Sanger Institute scientists raises new questions about the effects of gene loss on our wellbeing and evolution.

A team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells, and identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3).

A new gene responsible for some puberty disorders has been identified by Medical College of Georgia researchers.

Researchers at the Heidelberg University Hospital discover new genetic disease / Gene mutation that triggers severe cirrhosis of the liver identified / Published in “Hepatology”

The work follows a study carried out by Oregon Health and Science University, which suggested a link between a gene mutation in mice and tolerance to alcohol. Researchers at Liverpool have investigated this in worms, looking specifically at the role the gene plays in communication between cells in the nervous system.

Pat Phalin learned she had hearing loss at 30, when she volunteered to give hearing tests at her local school. The pupils heard sounds she could not hear.

New research suggests that not everyone who is bitten by a malaria-infected mosquito develops life threatening health problems according to scientists at the University of Toronto.

Using an important new method that can be applied in the study of other psychiatric illnesses, scientists at Cold Spring Harbor Laboratory (CSHL) in collaboration with colleagues at the University of Washington (UW) and the National Institute of Mental Health (NIMH), have identified multiple, individually rare gene mutations in people with schizophrenia that may help explain how that devastating illness is caused.

Mutations in genes governing an important cell-signaling pathway influence human longevity, scientists at the Albert Einstein College of Medicine of Yeshiva University have found. Their research is described in the March 4 issue of the Proceedings of the National Academy of Sciences.