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Wednesday, May 13 2020

New International Consortium Aims to Elucidate Rare Genomic Disorders Involved in Psychiatric Conditions

Dr. Sébastien Jacquemont and his research team at the CHU Sainte-Justine will be part of the Genome to Mental Health (GMH) consortium, a new initiative funded ($6 Million) under the Rare Genetic Disorders as a Window into the Genetic Architecture of Mental Disorders by the National Institute of Mental Health (NIMH) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). It includes researchers from 14 institutions and seven countries from North America, Europe and Africa, working on four different projects to elucidate rare genomic disorders involved in psychiatric conditions.

Dr. Sébastien Jacquemont, a medical geneticist and researcher at CHU Sainte-Justine and professor at the Université de Montréal, is an internationally recognized specialist in neuropsychiatric and neurodevelopmental disorders such as autism and fragile X syndrome. Within this consortium, his laboratory will be working on two projects where 1) they will recruit patients who carry genetic mutations associated with psychiatric illnesses and 2) they will be in charge of the genetic analysis of a data set, which gathers genetic and psychiatric information in 800,000 individuals.

“Rare genomic disorders affect less than 1/2000 people in the general population, but collectively, they are a major cause of developmental and psychiatric conditions, such as autism spectrum disorder, schizophrenia, attention deficit hyperactivity disorder, and intellectual disability,” explained Dr. Jacquemont. “The CHU Sainte-Justine is a leading provincial centre of expertise in rare genetic diseases in terms of the quality and number of its research projects, its clinical management and knowledge transfer”, he adds. “Being part of this consortium is a real opportunity to demonstrate our expertise worldwide.”

Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of these rare variants. However, more detailed studies are needed to fully characterize their clinical presentation and determine the risk for particular developmental and psychiatric conditions in individuals with a rare genomic variant. Rare genomic disorders have large impacts, which allow researchers to interrogate the link between molecular function and psychiatric symptoms.

The GMH consortium is structured around four projects that will study the behavioral and cognitive symptoms in individuals with rare genetic variants that confer high risk for neurodevelopmental psychiatric disorders. Participants will be identified in hospital clinics as well as in the general population across three continents.

The consortium aims to fill a critical knowledge gap. Most rare variants have been studied in isolation. As a result, essential information is sprinkled across many small studies that are difficult to compare. To accelerate discovery, the GMH consortium will collate and harmonize genetic data with quantitative measures of cognition and behavior across multiple genomic variants associated with increased risk of developmental and psychiatric outcomes. This coordinated effort across patients, families, researchers, clinicians and institutions, including rapid sharing of data, is required to translate discoveries into therapeutic potential.

Ultimately, studies conducted by the GMH consortium will pave the way for subsequent studies focused on improving early detection, initiation of services, prognosis, and support for patients. In the future, the clinical and genetic findings from this consortium may also contribute to therapeutic targets and outcome measures of clinical trials in patients with rare variants and psychiatric symptoms.

The sites participating in this consortium include the University of Pennsylvania, Children’s Hospital of Philadelphia, University of California Los Angeles, The Hospital for Sick Children (SickKids), the University of Toronto, Sainte Justine Pediatric Hospital Montreal, University of California San Diego, Geisinger, Washington University - St. Louis, University of Washington, Boston Children’s Hospital, Harvard Medical School, Maastricht University, University of Leuven, Cardiff University, University of Cape Town, Red Cross War Memorial Children’s Hospital, Cape Town.

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Updated on 5/13/2020
Created on 5/13/2020
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