Breaking News: Gene that causes CdLS to occur is discovered.

May 16, 2004
NICHD Funded Researchers Discover Gene for Cornelia De Lange Syndrome Discovery May Lead to Prenatal Test For Debilitating Disorder

"One of the immediate advantages of having identified the CdLS gene is that we now have a means to directly test individuals with CdLS by means of a blood test to confirm a diagnosis." - Dr. Ian Krantz, M.D. Childrens Hospital of Philadelphia

A team of researchers has discovered a gene for Cornelia de Lange Syndrome, a disorder consisting of mental retardation, heart defects and a number of physical abnormalities. The researchers were funded by the National Institute of Child Health and Human Development, one of the National Institutes of Health.

The researchers expect the discovery to speed the development of a prenatal genetic test for the syndrome. A similar test will also be developed to diagnose Cornelia de Lange Syndrome in young children suspected of having the disorder.

The gene which, when mutated, causes CdLS to occur has been identified on Chromosome 5 by the research groups of Dr. Ian Krantz of Childrens Hospital of Philadelphia (CHoP) and Dr. Tom Strachan of Newcastle University's Institute of Human Genetics in seperately and simultaneously published research papers in the Medical journal Nature Genetics.

Research into the location of the gene began more than 15 years ago by the founder of the CdLS scientific community, Dr. Laird Jackson and has continued since in Philadelphia and for the past nine years in Newcastle, England.