IDDRC Rapin Conference

Einstein’s Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC) recently hosted its fourth annual Isabelle Rapin Conference on Communication Disorders. The event honors longstanding faculty member Dr. Isabelle Rapin, professor emerita of neurology and of pediatrics, whose seminal contributions toward understanding autism earned her recognition as a “mother of autism” and “a luminary in her field.”

Dr. Isabelle Rapin
Dr. Isabelle Rapin
Each year, the conference highlights research concerning a specific neurodevelopmental disorder, and this year the focus was work shedding light on 22q11.2 deletion syndrome— also known as DiGeorge Syndrome or velocardiofacial syndrome.  Children afflicted with the disorder—which is caused by the absence of a small piece of chromosome 22—have distinctive facial anomalies and heart defects, delayed speech development and learning disabilities. They are also likely to have other developmental conditions that affect communication and social interaction.

This year’s Rapin Conference was organized by Dr. Bernice Morrow, professor of genetics, of pediatrics, and of obstetrics & gynecology and women’s health, whose lab studies key genetic pathways involved in the development of 22q11.2 deletion syndrome. The IDDRC also hosts an annual Rare Disease Day event each February, as part of the worldwide celebration held to raise awareness of rare diseases and the ways in which they affect patients’ lives.

The IDDRC was established at Einstein more than 40 years ago, to study brain development and function. By fostering collaboration between basic scientists and physicians, the IDDRC aims to “translate” research advances into novel therapies, particularly those designed to treat  intellectual and developmental disabilities affecting children.

Photo Gallery

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IDDRC director Dr. Steve  Walkley (From left):  Event speakers Ann Swillen; Donna McGinn; Carrie Bearden, Wendy Kates Event coordinator, Dr. Bernice Morrow Event speaker Donna McGinn Event speaker Dr. Ann Swillen Event speaker Dr. Noboru Hiroi Event speaker Dr. Carrie Bearden Event speaker Dr. Wendy Kates (From left): Bernice Morrow, Wendy Kates, Donna McGinn, Ann Swillen (behind Dr. Rapin), Isabelle Rapin, Carrie Bearden, Steven Walkley

 

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