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First SCID gene chip to be introduced at Academy meeting on immunodeficiencies

The first gene chip ever to be developed for detecting SCID (primary immunodeficiency) in newborns will be presented to researchers for the first time at the New York Academy of Sciences' and Jeffrey Modell Foundation's one-day conference, Primary Immunodeficiencies: Past, Present, Future. The meeting will take place on April 25 at Rockefeller University, Caspary Auditorium, 1230 York Avenue, NY, from 8 a.m. to 5:30 p.m. Thirty of the world's leading immunology investigators will present their findings and more than 350 scientists and physicians are expected to attend.

Primary Immunodeficiencies (PI) is a group of life threatening disorders that afflict millions of people in the U.S. and around the world. Public awareness of the disorder increased with the release of the film "The Boy in the Plastic Bubble" starring John Travolta as a child stricken with Severe Combined Immune Deficiency (SCID) who lived in a plastic enclosure until his death.

Exciting New Breakthroughs in Diagnosis and Treatment of SCID

In the past, a newborn diagnosed with SCID would not survive to his or her first birthday. Now, researchers have attained a ninety percent success rate in bone marrow transplantation and treatment advances can cure certain "Bubble Boy" diseases. Gene therapy and stem cell research also promise more exciting new breakthroughs. However, the speed with which a gene chip that could detect new mutations of SCID was developed took many researchers by surprise.

"This is incredibly exciting. The Jeffrey Modell Foundation began this collaboration with NIH and Affymetrix only six months ago and never dreamed that this technology could have been accomplished in such a short period of time. The introduction of this new technology will have significant impact not only on SCID newborns but a wide variety of diseases and disorders," said Fred Modell, co-founder of the Jeffrey Modell Foundation.

In October 2005, the Foundat ion committed one million dollars to develop a newborn screening test for SCID, which was targeted to be achieved over two years. The goal was to develop a chip to sequence known mutations as well as develop a "resequencing chip" to look for new mutations. Amazingly, the more difficult gene chip was developed months ahead of time and will be presented as part of Dr. Jennifer Puck's report on the use of microarray technology in developing genetic screening for SCID.

In addition to this technological breakthrough, the conference will feature an overview of PI and four plenary sessions that detail the immense progress that has been made within the last 20 years. Advances include the high success rate for bone marrow transplantation for unrelated, matched donors and treatments using gene therapy. In addition, researchers are optimistic that stem cell research may yield new treatments in the future. The conference coincides with the 20 year anniversary of the Jeffrey Modell Foundation, a not-for-profit organization dedicated to PI research, physician education and patient support.

Among the highlights of the conference are:

Max Cooper, M.D., Howard Hughes Medical Institute, University of Alabama, Birmingham, AL.

Topic: "Evolution of Immunology - Where is the Future," an overview on the progress made from the nearly hopeless state of diagnosis and treatment of PI 20 years ago versus the startling advances of today.

Jennifer Puck, M.D., Division of Immunology & Rheumatology, University of California, San Francisco.

Topic: "Translating Research Advances--Detecting Severe Combined Immune Deficiency (SCID) Early Through Newborn Screening," a report on a joint venture between NIH, Affymetrix Inc. and the Jeffrey Modell Foundation in developing genetic screening for SCID using microarray technology.

Chaim Roifman, M.D., Division of Immunology & Allergy, Hospital for Sick Children, Toronto

Topic: "Can We Finally Choose Mismatched Related vs Matched Unrelated Donors for Transplantation of SCID?" - an update on research published Feb. 1, 2006 in JAMA showing how matched unrelated donors provided better engraftment, immune reconstitution and survival for SCIDpatients undergoing bone marrow transplantation compared to mismatched related donors.

Alessando Aiuiti, M.D., Ph.D., San Raffaele Telethon Institute for Gene Therapy, Milan.

Topic: "Current Challenges and Future Perspectives for Gene Therapy," commentary on successful outcomes in gene therapy to cure PI in clinical trials.

Irving Weissman, M.D., Ph.D., Director, Institute for Cancer and Cell Biology, Stanford University School of Medicine, Stanford, CA.

Topic: "The Big Picture: Politics and Science"

One of the world's leading experts on stem cell research will deliver a provocative update on stem cell research, its potential for curing a wide range of diseases and the presence of politics and government in science.


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Source:New York Academy of Sciences


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