Genetics

Researchers shed light on role of genes in autism

(Medical Xpress)—Research carried out by Medical Research Council (MRC) researchers at the University of Oxford has uncovered a chain of genetic events that are common in individuals with autism, and have examined for the ...

Genetics

Startle disease: Further key gene variants discovered

Research funded by children's charity Action Medical Research has uncovered new gene variants in startle disease, a rare condition in newborn babies. Understanding the genetic causes should lead to new genetic tests and is ...

Medical research

Four genes indentified that influence levels of 'bad' cholesterol

Scientists at the Texas Biomedical Research Institute in San Antonio have identified four genes in baboons that influence levels of "bad" cholesterol. This discovery could lead to the development of new drugs to reduce the ...

Genetics

Team identifies two genes that combine to cause rare syndrome

Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia – ...

Diseases, Conditions, Syndromes

Faulty gene regulation triggers the kidney disease FSGS

The Clinical Institute of Pathology at the MedUni Vienna has discovered a previously unknown mechanism in the regulation of gene expression that leads to the development of a chronic renal condition known as focal segmental ...

Genetics

New database to speed genetic discoveries

A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene. As described in an article in the May issue of Human Mutation, ...

Genetics

24 new genes for short-sightedness identified

An international team of scientists led by King's College London has discovered 24 new genes that cause refractive errors and myopia (short-sightedness).

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