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.

A genetic mutation already known to be more common in Ashkenazi Jewish breast cancer patients is also prevalent in Hispanic and young African-American women with breast cancer, according to one of the largest, multiracial studies of the mutation to date.

By introducing a gene mutation in mice, investigators have created what they believe to be the first accurate model of autism not associated with a broader neuropsychiatric syndrome, according to research presented at the American College of Neuropsychopharmacology annual meeting.

Research published today in Nature Genetics shows that some rearrangements of the human genome occur more frequently than previously thought. The work is likely to lead to new identification of genes involved in disease and to improve diagnosis of genomic disease.

Cystic fibrosis (CF) is an inherited disease caused by mutations in the CFTR gene. Each mutation has number of effects on the cells of the lungs.

New research from the Howard Florey Institute in Melbourne has shown why mutation in a single gene can cause epilepsy in infants.