Equipo de Genes IDD

Children seen at the Children’s Hospital at Montefiore (CHAM) and the Children’s Evaluation and Rehabilitation Center (CERC) at Einstein who are suspected of having genetic causes for moderate to-severe intellectual disabilities, autism, or seizures undergo genomic sequencing. When a gene is identified, the RFK IDDRC tracks it and forms an IDD Gene Team. These teams consist of the affected family and their Montefiore clinician along with scientists and their trainees who are familiar with the involved gene, its protein or pathway.

Parents are invited to join the team, and Einstein scientists are consulted to explore their knowledge of the gene. The team then meets (virtually or in person), where the parents share their child's story, the physician discusses clinical findings, and the scientist and/or their trainee explains, in simple language, the gene’s role in the body and its potential link to the disorder. In some cases, possible treatments and research directions are explored.

Following the meeting, the RFK IDDRC may provide pilot funding to support further research on the gene variant. The center also keeps families updated on progress

This collaborative approach has been successful, with parents deeply engaged in learning about their child’s condition. Many have even founded organizations to raise awareness and funds for research, while connecting with other families worldwide.

Watch a video about how a family's experience with the Gene Team led to research on their child's condition.

We are currently following these genes and genes marked with an asterisk (*) already have established teams, while others are still seeking interested researchers.

To learn more about the RFK IDDRC IDD Gene Team Program, please see the following recent publication: JNDD article and/or contact Anita Wlazlo

Please Consider Helping the RFK IDDRC Support Its IDD Gene Team Program