An international team of researchers has discovered the gene for Cornelia de Lange syndrome, a disabling, multisystem genetic disease that affects an estimated one in 10,000 children. The finding is expected to lead to a genetic test, enabling rapid and definitive diagnosis of the syndrome, as well as prenatal testing for families who already have one child with the disease.

Geneticists from The Childrens Hospital of Philadelphia and Drexel University College of Medicine in Philadelphia led the study, which received advance online publication on May 17 on the web site of Nature Genetics. In pinpointing the gene, they used an innovative research approach that may lend itself to investigations of other genetic conditions, particularly orphan diseases: rare, poorly understood disorders.

The lead researchers, Ian D. Krantz, M.D., of Childrens Hospital, and Laird G. Jackson, M.D., of Drexel University College of Medicine, together maintain the worlds largest database of patients with Cornelia de Lange syndrome (CdLS), drawing on clinical records and genetic samples first gathered 30 years ago.

Named for a Dutch physician who first described it in 1933, the syndrome often includes mental retardation, impaired growth, heart defects, gastroesophageal reflux and feeding problems, impaired vision, hearing loss, and upper limb abnormalities, including missing fingers or hands. There are typically distinctive facial features, such as thin eyebrows that join together, long eyelashes, thin lips and excessive body hair. In the past, CdLS was often fatal in infancy; now, most children with the condition live into adulthood.

Although CdLS has been known for decades, the disease is a challenge to scientists. This syndrome has been confusing for a long time, because its been difficult to trace one source for its multiple effects on many organs, said Dr. Krantz, the lead author and principal investigator of the study. The disease is also variable some
'"/>


16-May-2004

Page: 1 2 3
Related biology news :

1. New hydrothermal vents discovered as South Pacific Odyssey research begins
2. A new protein is discovered to play a key role in cancer progression
3. Newly discovered protein may be key to muscular dystrophy
4. Scientist who discovered Sly syndrome finds new research path to explore for treating the disease
5. Ancient brewery discovered on mountaintop in Peru
6. Location of potential familial lung cancer gene discovered
7. Extinct bird rediscovered in Mexico
8. Wistar-discovered antibody will help diagnose appendicitis
9. Earliest evidence of hereditary genetic disorder discovered by Hebrew University researchers
10. Mother lode of jaguars discovered in Bolivia park
11. Surprising ultra-conserved regions discovered in human genome