IDD Gene Team

As part of our Children’s Brain Initiative, the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC) has created a new personalized medicine program called “Operation IDD Gene Team”.

Here is how the program works:

  1. Children seen at CHAM and CERC who are suspected of having a rare genetic etiology underlying a neurodevelopmental disorder (with moderate to severe IDD/autism/seizures) undergo genomic sequencing through CHAM’s clinical programs.
  2. Resulting gene discoveries believed linked to the child’s condition are tracked by the RFK IDDRC with the goal of building “IDD Gene Teams” consisting of basic scientists and their trainees, clinicians and their clinical fellows, and the parents/care givers for the affected child.
  3. Parents are contacted by their child’s pediatrician to see if they are interested in being part of a team and Montefiore Einstein scientists are queried with the goal of identifying a those knowledgeable about the gene in question.
  4. The IDD Gene Team then meets, either in person or virtually.  Here, the parents tell their child’s story, the physician addresses what is known about the condition clinically, and the scientist provides a lay tutorial explaining what is known about the gene, its protein and role in cells, and how its absence could cause brain disease.  When appropriate, possible treatments and related research ideas are explored.
  5. Following the tutorial, the RFK IDDRC may provide pilot grant funding to the scientist and his/her laboratory to encourage further studies of the child’s gene variant and disease.  IDDRC personnel also maintain a relationship with the family to provide updates on research activities. In some cases, additional tutorials are held to provide research updates.

The RFK IDDRC’s IDD Gene Team program has been remarkably successful with parents embracing the opportunity to learn more about their child’s condition.  In some cases, they have gone on to develop foundations for their child’s rare disease and have become actively engaged identifying other affected families worldwide as well as raising funds to support research.

Genes we are currently tracking as part of this program include the following:


Those marked with an asterisk have had teams developed; those without are still in need of an interested laboratory. For detailed descriptions of the genes and their related conditions, click on the individual gene designation; If you have interests in any listed gene and would like additional information, please contact Julie Mota (