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

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. For more information, see https://nyckidseq.org/.

Resulting gene discoveries believed linked to IDD will be tracked by the Rose F. Kennedy IDDRC 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.

Importantly, in addition to creating these expert panels, we also encourage the active participation of families by offering information-sharing sessions (“tutorials”), where we put the scientists and clinicians together with the interested parents to create “IDD Gene Teams.”  Our goal here is to help the parents understand what is known about the involved gene and its protein and how research advances could best be achieved.

The Rose F. Kennedy IDDRC will also sponsor periodic 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 as part of this program 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 and IDD Gene Teams have been developed for CACNA1A, COL4A1, 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 (lisa.guillory@einstein.yu.edu).