Navigation Links
Two researchers known for identifying and treating 'bubble boy' disease honored by March of Dimes
Date:3/28/2014

NASHVILLE, TENNESSEE, MARCH 26, 2014 Two pediatricians whose research led to the need for early identification of and treatment of severe combined immunodeficiency (SCID) and its inclusion in newborn screening have received the March of Dimes/Col. Harland D. Sanders Lifetime Achievement Award in Genetics.

Children affected with SCID are at risk of developing life-threatening infections because they lack a normal immune system. The disorder became familiar to the public as "bubble boy disease" because an affected child, David, who was born before the wide availability of bone marrow transplantation treatment, had to live in a germ-protected environment.

Edward R.B. McCabe, MD, March of Dimes chief medical officer, presented the award to Rebecca H. Buckley, MD, professor of immunology and the J. Buren Sidbury Professor of Pediatrics at Duke University Medical Center and Jennifer M. Puck, MD, professor of pediatrics at the University of California San Francisco School of Medicine during the annual meeting of the American College of Medical Genetics today.

"Dr. Buckley and Dr. Puck together laid the groundwork for early detection of SCID. They made it possible to treat the disorder soon after birth, rather than waiting for babies with the condition to suffer from diarrhea, failure to thrive and increasingly severe bacterial, fungal and viral infections. They've given many babies a better chance for a healthy life," said Dr. McCabe.

Dr. Puck's research group was one of two teams that identified the rare X-linked recessive gene responsible for SCID-X1, and developed the newborn screening test for it. The gene Dr. Puck identified is the most common cause of SCID.

Dr. Buckley's colleagues identified other genetic causes of SCID and also showed that SCID can be effectively treated by bone marrow transplantation regardless of the molecular type. She observed a 92 percent long-term survival rate if the transplant is done in the first three and half months of life. She successfully advocated to have SCID included on the U.S. Secretary of Health & Human Services recommended uniform panel of newborn screening tests.

Dr. Puck earned her medical degree from Harvard Medical School. From 1993 to 2006, she was an investigator in the National Human Genome Research Institute before joining the faculty of the University of California, San Francisco School of Medicine.

Dr. Buckley earned her bachelor's degree at Duke University and her medical degree at the University of North Carolina, School of Medicine before joining the faculty of the Duke University Medical Center.

Established in 1986, the March of Dimes/Colonel Harland Sanders Award is given annually to individuals whose lifetime body of research and education has made significant contributions to the genetic sciences.


'/>"/>

Contact: Elizabeth Lynch
elynch@marchofdimes.coom
914-997-4286
March of Dimes Foundation
Source:Eurekalert

Related biology news :

1. Researchers at IRB discover a key regulator of colon cancer
2. Researchers reveal the dynamics behind Arctic ecosystems
3. IRCM researchers uncover a new function for an important player in the immune response
4. UGA researchers explore function of cancer-causing gene
5. Researchers present comprehensive roadmap of blood cells
6. UT Southwestern ob/gyn researchers studying genetic factors in premature births
7. Researchers issue state-of-the-state on genetic-based testing & treatment for breast cancer
8. Miscarriage clues identified in new DNA test according to researchers at Montefiore and Einstein
9. Researchers uncover allergy-cancer connection
10. Vanderbilt diabetes researchers track cells ability to regenerate
11. Researchers devise new, stretchable antenna for wearable health monitoring
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/30/2017)... LOS ANGELES , March 30, 2017  On ... Hack the Genome hackathon at ... This exciting two-day competition will focus on developing health ... experience. Hack the Genome is ... has been tremendous. The world,s largest companies in the ...
(Date:3/29/2017)... March 29, 2017  higi, the health IT company ... North America , today announced a Series ... acquisition of EveryMove. The new investment and acquisition accelerates ... tools to transform population health activities through the collection ... higi collects and secures data today on ...
(Date:3/24/2017)... Controller General of Immigration from Maldives Mr. Mohamed Anwar and ... international IAIR Award for the most innovative high security ePassport and eGates  ... ... Maldives Immigration Controller General, Mr. Mohamed Anwar ... right) have received the IAIR award for the "Most innovative high security ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... Disappearing forests and increased ... of over 5.5 million people each year. Especially those living in larger cities are ... - based in one of the most pollution-affected countries globally - decided to take ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... antibody-drug conjugate (ADC) therapeutics, today confirmed licensing rights that give it exclusive ... a technology developed in collaboration with Children’s Hospital Los Angeles (CHLA). ...
(Date:10/10/2017)... SomaGenics announced the receipt of a Phase ... (Single Cell), expected to be the first commercially available ... from single cells using NGS methods. The NIH,s recent ... development of approaches to analyze the heterogeneity of cell ... for measuring levels of mRNAs in individual cells have ...
(Date:10/9/2017)... ... October 09, 2017 , ... The award-winning American Farmer television series will ... American Farmer airs Tuesdays at 8:30aET on RFD-TV. , With global population estimates ... of how to continue to feed a growing nation. At the same time, many ...
Breaking Biology Technology: