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.

• CoRDS 1p36 Deletion Syndrome Registry - for more information go to http://www.1p36dsa.org/1p36-dsa-blog/2019/4/6/cords-registry.html
• 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.
• There is currently ongoing research to develop a non-invasive prenatal blood test that can diagnose genetic disorders in the fetus by looking at fetal DNA (genetic material) found in the mother’s bloodstream during pregnancy.  Natera is recruiting patients that are currently pregnant and carrying a baby that has been diagnosed with 1p36 deletion.  They are also recruiting children/adults that have been diagnosed with 1p36 deletion along with their parents.  Participation requires a blood draw and reimbursement for participation is provided.  Please contact Natera at research@natera.comor 1-877-476-4743 ext.446 for more information. 
  To view the research informational flyers please follow the links below:
  - pregnant with a child diagnosed with 1p36 Deletion Syndrome
  - have a child diagnosed with 1p36 Deletion Syndrome