New Hope for CdLS Sufferers
Institute of Human Genetics
Researchers at the Institute of Human Genetics, part of the University of Newcastle, have recently identified a new gene, NIPBL, that is a major cause of Cornelia de Lange Syndrome (CdLS).
CdLS is rare and effects between 1 in 40,000 and 1 in 100,000 babies born. Symptoms of CdLS include limb abnormalities, feeding and bowel problems and psychological and behavioural problems. The scientists from the team are hoping that the discovery should enable detection of the mutation in 50-60% of CdLS individuals at the standard testing point. The research has recently been published in Nature Genetics and the team of researchers are pictured here.
The Institute itself is based at the International Centre for Life alongside the NHS Northern Genetics Service and their main focus is on molecular, genetic and cell biology research. The Institute aims to understand biological processes by investigation the structure of genes, how they vary and how they function.
Submitted by: Sarah McLeod, 03 August 2004
