RARE DISEASES CLINICAL RESEARCH NETWORK
Developmental Synaptopathies Consortium |  |
Working together to improve the lives of patients and families affected by developmental synaptopathies, rare genetic syndromes that often cause autism spectrum disorder and intellectual disability. These diseases seem to affect certain shared pathways influencing the development of brain connections, or synapses. | |
Principal Investigator
Boston Children's Hospital
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NUMBERS
TOP PUBLICATION
JOURNAL: npj Genomic Medicine
PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by mutations in the PTEN gene, which typically suppresses formation of tumors. Individuals with PHTS can experience a wide variety of outcomes, including cancer, neurodevelopmental disorders, or both. Not much is known about why these phenotypes are so different, even among individuals with the same PTEN variants.
In this study, researchers identified genomic modifiers of phenotypes in PHTS. The team performed whole-genome sequencing of individuals with PHTS, family members, and other PTEN variant carriers.
Results show that PHTS phenotypes are shaped by complex interactions between many different genes, including PTEN and others. Authors note that these findings reveal more about the different cancer and neurodevelopmental disorder phenotypes, as well as potentially improve prediction of outcome risks for individual patients.
What was your consortium's most significant achievement from the past year?
Rajna Filip-Dhima, MS, Project Manager, DSC: The addition and onboarding of a new disease group, SYNGAP1-related intellectual disability (SYNGAP1-ID).