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What is 1p36 Deletion Syndrome?

 

1p36 Deletion Syndrome is a chromosome disorder that can be characterized by moderate to severe intellectual disability, delayed growth, limited speech ability and distinct facial features. It is estimated that 1p36 Deletion Syndrome occurs in one in every 5,000 to 10,000 births though many individuals still go undiagnosed. Though many people have never heard of 1p36 Deletion Syndrome, it is the one of the most common chromosome deletions. Learn More

Entries in research (1)

Thursday
Nov012012
DateThursday, November 1, 2012 at 6:58PM

1p36 Deletion Syndrome Research Opportunities

1p36 Deletion Support & Awareness recognizes the need for continued research into the many facets of 1p36 Deletion Syndrome. There is so much that researchers and the medical community do not understand about the syndrome. Because of this, 1p36 DSA encourages research into 1p36 Deletion Syndrome. At this time our organizational resources do not allow us to fully fund research initiatives but we do have contact with researchers around the country and we try to make them aware of the most pressing concerns that our 1p36 community has.

Below is a list of research projects that 1p36 DSA is aware of and supportive of. We do not specifically endorse any specific research project but encourage families to look over the research opportunities to see if it is something they would like to participate in. The more our 1p36 community is involved in and supportive of research, the more the medical community can learn about 1p36 Deletion syndrome. Please contact the researchers directly for more information.

  • Dr. Daryl Scott, from Baylor College of Medicine, is conducting a research study to identify the genes that cause the medical problems associated with isolated 1p36 deletions.  Participants are asked to provide information about their child’s 1p36 deletion and health history.  For more information, please e-mail Dr. Scott at dscott@bcm.edu.

  • Dr. Bernice Morrow, PhD is interested in identifying genes responsible for altering severity of medical problems in individuals affected with monosomy 1p36 syndrome.  She has an institutional internal review board (IRB) approved project to collect and analyze blood samples from affected children or adults and their parents. You will need to sign a consent form for research. This project is in collaboration with Drs. Lisa Shaffer and Daryl Scott.  If you are interested in participating in our study, please contact Bernice Morrow at bernice.morrow@einstein.yu.edu. 

    Bernice E. Morrow, Director of Translational Genetics, Professor of Genetics, Ob/Gyn and Pediatrics. Albert Einstein College of Medicine, 1301 Morris Park Ave, Bronx NY 10461, email:  bernice.morrow@einstein.yu.edu, phone: 718-678-1121, fax: 718-678-1016

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