CHOP Researchers Join NIH Consortium to Study Rare Genetic Disorders Involved in Psychiatric Conditions

CHOP Researchers Join NIH Consortium to Study Rare Genetic Disorders Involved in Psychiatric Conditions

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Researchers at Children’s Hospital of Philadelphia (CHOP) were instrumental in establishing a consortium funded by the National Institutes of Health (NIH) to study the connection between rare genetic disorders and psychiatric conditions. The “Genome to Mental Health” (GMH) consortium will collect data on psychiatric symptoms and genetic variants associated with an increased risk for neurodevelopmental/behavioral differences, such as those associated with the chromosome 22q11.2 deletion and duplication syndromes, with the aim of using the findings to improve patient care.

“This consortium will fill a critical knowledge gap,” said Donna McDonald-McGinn, MS, LCGC, Director of the 22Q and You Center, Chief of the Section of Genetic Counseling, Associate Director of the Clinical Genetics Center, and Principle Investigator for this study at CHOP. “By coordinating research efforts across institutions, patients, and families and sharing our data in a streamlined way, we have the opportunity to make meaningful progress in the diagnosis and treatment of these rare conditions.”

Although rare genomic disorders affect less than 1 in 2,000 people in the general population, they are a major cause of developmental and psychiatric conditions, such as autism spectrum disorder, schizophrenia, attention deficit hyperactivity disorder, and intellectual disability. Technological advances have improved identification of genetic variants, but far less is known about how patients with these rare disorders might present to their healthcare providers, which can complicate early detection and treatment. 

The new $6 million initiative, funded by the National Institute of Mental Health (NIMH) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), aims to close that knowledge gap by focusing on four projects that track behavioral and cognitive symptoms in those with rare genetic variants associated with psychiatric conditions. The consortium includes researchers from 14 institutions, including CHOP and the University of Pennsylvania, and seven countries from North America, Europe, and Africa.

Ultimately, researchers hope the studies funded by the initiative will lay the groundwork for early detection of these conditions and improved patient treatment.

“No question, the findings generated by this consortium have the potential to identify biologic targets that could someday be used to develop novel therapeutics for these patients, as well as patients in the general population with these behavioral differences,” McDonald-McGinn said.


Contact: Dana Bate, The Children’s Hospital of Philadelphia, 267-426-6055 or

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