HOME >> BIOLOGY >> NEWS
Gene discovered for Cornelia de Lange syndrome, a disabling genetic disease

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

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:5/6/2017)... RAM Group , Singaporean based ... in biometric authentication based on a novel  ... to perform biometric authentication. These new sensors are based on ... Ram Group and its partners. This sensor will have ... and security. Ram Group is a next generation ...
(Date:4/19/2017)... ALBANY, New York , April 19, 2017 /PRNewswire/ ... highly competitive, as its vendor landscape is marked by ... in the market is however held by five major ... and Safran. Together these companies accounted for nearly 61% ... majority of the leading companies in the global military ...
(Date:4/17/2017)... 17, 2017 NXT-ID, Inc. (NASDAQ: NXTD ... filing of its 2016 Annual Report on Form 10-K on Thursday ... ... available in the Investor Relations section of the Company,s website at ... website at http://www.sec.gov . 2016 Year Highlights: ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... ... 10, 2017 , ... USDM Life Sciences , the ... sciences and healthcare industries, announces a presentation by Subbu Viswanathan and Jennifer Jaye ... GxP Validation for Agile Cloud Platforms,” will present a revolutionary approach to achieving ...
(Date:10/9/2017)... ... 09, 2017 , ... At its national board meeting in North Carolina, ... University’s Departments of Physics and Astronomy, has been selected for membership in ARCS ... for the 2015 Breakthrough Prize in Fundamental physics for the discovery of the accelerating ...
(Date:10/7/2017)... ... October 06, 2017 , ... Phase ... metagenome deconvolution product, featuring the first commercially available Hi-C kit. Researchers can ... Hi-C metagenome deconvolution using their own facilities, supplementing the company’s full-service ProxiMeta ...
(Date:10/5/2017)... ... 05, 2017 , ... LabRoots , the leading provider of educational and ... giving back to cancer research with a month-long promotion supporting the advancement of breast ... shoppers can use promo code PinkRibbon to get 10 percent off their purchase of ...
Breaking Biology Technology:
Cached News: