Monthly Archives: July 2010

CdLS Researcher’s Work with Fruit Flies Creates Buzz


(From Saint Louis University’s web site)

Dorsett’s Work with Fruit Flies Creates Buzz: Biochemist Credits Lab Team Members for Dedication to Research

Dale Dorsett, Ph.D., a professor in the department of biochemistry and molecular biology, received an award for his research on a genetic syndrome from a national foundation.

The award recognizes an individual’s significant medical or scientific contributions toward understanding Cornelia de Lange Syndrome and improving the lives of those affected by it.

“The award really belongs to the people in my lab who have worked so hard over the past 10 years or so,” Dorsett said.

“It’s very exciting to be recognized for our work with fruit flies by a family organization dedicated to a human genetic syndrome. It definitely motivates us to do more. Virtually all scientists who work with fruit flies believe their work will eventually have direct implications for human health, but it’s uncommon for it to become so directly relevant within a few years of the initial discoveries.”

The second person to receive the recognition, Dorsett was chosen because his work with Drosophila (fruit flies) helps explain how and why Cornelia de Lange Syndrome happens. His work led to the identification of the NIPBL gene in Drosophila in 1999 and its role in development before it was discovered as the first Cornelia de Lange Syndrome gene in 2004.

Dorsett’s lab uses the molecular genetics and genomics of fruit flies to understand how chromosome structure controls gene expression during development. His lab’s work has shed light on the molecular mechanisms of Cornelia de Lange Syndrome, which causes multiple developmental delays in humans, including slow growth, intellectual disabilities and various structural birth defects.

Often unrecognized, Cornelia de Lange Syndrome is a genetic syndrome that occurs in about 1 in 10,000 births. An estimated 20,000 people in the U.S. have Cornelia de Lange Syndrome but remain undiagnosed and/or without support services.

Although individuals with Cornelia de Lange Syndrome range from mildly to severely affected, most have similar physical characteristics: small size, hands and feet; thin eyebrows that meet in the middle; long eyelashes; upturned nose; and thin, downturned lips.

Some individuals have problems with their limbs such as missing fingers or arms and partial joining of the toes. Common medical problems include gastroesophageal reflux, bowel obstruction, hearing loss and congenital heart defects.

Created in 2008, the award is inspired by the foundation’s former medical director, Laird Jackson, M.D., who began his involvement with the foundation more than three decades ago, and continues to remain active in research and clinical work.

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New program educates doctors, nurses about CdLS

We’ve launched a new outreach program aimed at educating medical professionals about CdLS. The program includes a postcard mailing to 75,000 neonatal/OB nurses, pediatric nurses/nurse practitioners and pediatricians from across the country. In addition to educating recipients about CdLS, the postcard (pictured) provides details on our new CdLS Diagnostic Criteria Checklist notepad, provided free to anyone in the medical field who requests it. The checklist can help professionals rule in or rule out a clinical diagnosis of CdLS.

The program–funded by the Centers for Disease Control and the American Legion Child Welfare Foundation–not only strives to put CdLS on the radar of medical professionals, but also to ensure accurate and early diagnosis of the syndrome.

If you know a doctor of nurse who would be interested in receiving a free notepad, you can direct him/her to our request form at http://www.cdlsusa.org/checklist.shtml.

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Conference 2010 Recap

It was an amazing few days – and mom Sandi captured it perfectly in this video. Enjoy.

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