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Operation IDD Gene Team Brings Together Physicians, Scientists and Families to Address Rare Genetic Disorders

A new Einstein-Montefiore initiative, “Operation IDD Gene Team,” brings together physicians and research scientists to conduct groundbreaking research that may enhance treatment for children with extremely rare genetic disorders and neurologic diseases for which little information may be known.

“These families feel like their world is upside down when they get the diagnosis. Then, when they try to reach out and share it with somebody, there is nobody there because it’s just so rare,” says Melissa Wasserstein, MD, Chief of the Division of Pediatric Genetic Medicine at Children's Hospital at Montefiore and Associate Professor of Pediatrics at Albert Einstein College of Medicine.

This revolutionary initiative between the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC) at Albert Einstein College of Medicine and Children’s Hospital at Montefiore (CHAM) launched last year, and has already developed a wealth of vital research.

When genetic testing reveals a patient’s rare genetic disorder, a report is developed by the IDDRC about the gene. A request is then sent to the IDDRC members, which include faculty at Einstein and Montefiore, seeking researchers interested in working with this particular gene, with the goals of understanding the disease better, educating the patient and his or her family and possibly developing a treatment.

The Operation Gene Team was developed by Dr. Wasserstein; Robert Marion, MD, Executive Director of the Children’s Evaluation and Rehabilitation Center and the University Center of Excellence in Developmental Disabilities at the Rose F. Kennedy Center, Chief of the Divisions of Genetics and Development Medicine at CHAM and Director of the Center for Congenital Disorders; and Steven Walkley, PhD, DVM, Director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center and Professor of Neuroscience, Neurology and Pathology at Albert Einstein College of Medicine.

“The idea, first and foremost, is to educate parents when they want more information about how a mutation in a single gene in their child is leading to their clinical condition,” says Dr. Walkley. “Also, one of the goals of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center program is to advance basic research on genetic diseases, particularly those that are linked to intellectual disability. We see this as an opportunity to get scientists and clinicians talking together and on the same page about the same condition.”

Through the Dean’s office at Einstein, competitive $20,000 grants can be awarded to help fund research. In the future, clinical trials would be a goal for the initiative.

When requested by parents, the team organizes information-sharing sessions, or tutorials, to help parents understand what is known about the involved gene and its protein and how research advances could best be achieved. The Operation IDD Gene Team has led four tutorials, and a fifth is planned for October.

One of the first teams worked with the Foglio family, whose son, Ben, was diagnosed with Salla disease. The family formed the Salla Treatment and Research Foundation (A Star for Ben).  On September 28, 2018, the Salla Treatment and Research Foundation, in partnership with Einstein and Montefiore, brought together families affected by Salla disease from Finland, Germany, Switzerland and other countries, with internationally-renowned physicians and scientists for a think tank style meeting in Tarrytown to share information, research and experiences.

The goal of the Operation IDD Gene Team initiative is to help more families like the Foglios. “Families see that somebody really cares,” says Dr. Wasserstein. “They feel like a whole team is behind them, and going the whole nine yards to help their child.”

Learn more about the Operation IDD Gene Team initiative here.

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