NEW YORK (GenomeWeb) – The National Institutes of Health has awarded a five-year, $3 million grant to researchers at the Geisinger Clinic to investigate the genetic foundations of developmental brain disorders such as schizophrenia and autism spectrum disorder.
With the NIH funding, the investigators will combine online familial-based phenotype analyses with whole-exome sequencing data to identify the factors that contribute to the variable phenotypes observed in developmental brain condition patients with the same copy number variant (CNV) profiles.
"The variability in clinical presentation in individuals with the same pathogenic CNV is one of the major difficulties that remains in predicting neurodevelopmental and psychiatric outcomes," Geisinger's Christa Lese Martin, principle investigator of the study, said in a statement. "The use of family-based assessments to help predict strengths and weaknesses in a child with a de novo CNV may help guide healthcare providers as they work with families to better understand the developmental implications of pathogenic CNVs.
"Ultimately, this information could be used to target therapies in a personalized, preemptive manner," she added.
According to the grant, the Geisinger researchers hypothesize that individuals with multiple genomic variants linked to developmental brain disorders exhibit more severe phenotypes than those with only a single CNV.
Through the project, Martin and her collaborators hope to quantify the impact of de novo CNVs on observed levels of neurodevelopmental function, as well as to identify new deleterious genomic variants and genomic modifiers behind the phenotypic variability of individuals with developmental brain disorders.