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Researchers identify genetic mutation causing lethal condition in infants

Newborn children born with a mutation in the Plasmalemma Vesicle Associated Protein (PLVAP) gene develop severe protein losing enteropathy, according to a case study1 published in Cellular and Molecular Gastroenterology and Hepatology, the basic science journal of the American Gastroenterological Association. Protein losing enteropathy is a condition of the GI tract that results in loss [...]

Discovery of new genetic mutation in aortic disease allows better diagnosis

Thoracic aortic aneurysm and dissection (TAAD), an enlargement or tearing of the walls of the aorta in the chest, is, together with abdominal aortic aneurysms, responsible for about 2% of all deaths in Western countries. The aorta is the largest artery in the body, and carries blood from the heart. About one out of every [...]

Genetic mutation helps explain why, in rare cases, flu can kill

Nobody likes getting the flu, but for some people, fluids and rest aren’t enough. A small number of children who catch the influenza virus fall so ill they end up in the hospital – perhaps needing ventilators to breathe – even while their family and friends recover easily. New research by Rockefeller University scientists, published [...]

Study sheds new light on aggressive cancer in children

A new study involving researchers at The University of Nottingham has revealed how children with an aggressive cancer predisposition syndrome experience a never before seen flood of mutations in their disease in just six months. The syndrome, called ‘biallelic mismatch repair deficiency’ (bMMRD) causes multiple brain tumours, lymphomas and gastrointestinal cancers by the age of [...]

Researchers discover unique genetic disorder responsible for ovarian insufficiency in women under 40

Premature ovarian failure, also known as primary ovarian insufficiency (POI), affects 1% of all women worldwide. In most cases, the exact cause of the condition, which is often associated with infertility, is difficult to determine. A new Tel Aviv University study throws a spotlight on a previously-unidentified cause of POI: a unique mutation in a [...]