Rose F. Kennedy Intellectual and Developmental Disabilities Research Center

Operation IDD Gene Team

As part of our Children’s Brain Initiative, the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center announces the creation of a new program called “Operation IDD Gene Team”.

Children seen at CHAM and CERC who are suspected of having a genetic etiology of their moderate to severe IDD are having genomic sequencing through CHAM’s clinical programs as well as through the NIH funded program, NYCKidSeq (M. Wasserstein, PI). In addition to performing whole genome sequencing on several hundred children with IDD to identify causative genes, NYCKidSeq is also focused on evaluating innovative ways to share complex genomic information with families and integrate it within the medical system.

Resulting gene discoveries believed linked to IDD will be tracked with the goal of building basic scientist - clinical investigator collaboratives (“expert panels”) designed to advance understanding of how alterations in the discovered genes/proteins are linked to IDD, and when applicable what therapies might be tested. A variety of creative funding means will be utilized to facilitate pilot research designed to lead to larger grants submitted to the NIH.

In addition to creating expert panels, when requested by parents/care givers we will also organize information-sharing sessions (“tutorials”) between the scientists/clinicians and parents in order to help them understand what is known about the involved gene and its protein and how research advances could best be achieved.

We will also hold periodic Operation IDD-Gene Team “rounds” on the Montefiore/Einstein campuses, inviting basic scientists and clinicians, postdocs, fellows, students, and as appropriate, parents/patients to attend. Genes we are currently tracking include the following:
ANKS1B, CACNA1A, COL4A1, DYNC1H1, EPG5, GATAD2B, HNRNPH2, PPM1D, SHANK2, SLC17A5, SLC29A3, and WHSC1.
(For detailed descriptions of the genes and their related conditions, please click on the individual gene designation).

To date, expert panels have been developed for CACNA1A, DYNC1H1, PPM1D, SHANK2, and SLC17A5. If you are interested in joining an established panel or helping to create a new one for a gene not yet covered, please contact the IDDRC office.

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