Neuropsychiatric and Neurodevelopmental Disorders: Harnessing Rare Variants
Scientific Organizers: Jennifer G. Mulle, Audrey Thurm, Christa L. Martin and Carrie E. Bearden
Date: January 24 - 27, 2021
Location: Embassy Suites by Hilton Boulder, Boulder, CO, USA
This is an unprecedented time in psychiatric genetics. There are now hundreds of rare genetic variants that are strongly associated with neuropsychiatric traits and psychiatric disease. Many individual teams are making progress studying a given gene or genomic interval, and the time is right for knowledge transfer across teams. This conference is driven by three emerging concepts. First, the discovery of rare variants with large effect for neuropsychiatric disorders provides a new avenue for understanding the underlying mechanisms of more common disorders. Second, these rare variants are often associated with multiple neurodevelopmental or neuropsychiatric disorders, suggesting that there are common biological pathways that confer susceptibility to disease; this finding simultaneously suggests that genetic and epigenetic modifiers play a key role in determining the phenotype of specific individuals. Third, large scale collaborative efforts and harmonized frameworks for data collection are starting to enable more fine-grained, quantitative and even longitudinal phenotyping of probands and relatives, allowing us to move beyond the relatively gross characterization of categorical DSM diagnoses. These new findings underscore the need for interaction between geneticists, neurobiologists and clinical scientists, and this meeting sets the stage for such cross-cutting collaborations. Four deliverables are anticipated from this meeting: 1) a suggested set of common measures and outcomes for harmonization in human phenotype studies and clinical trials, to be applied across disorders and across the developmental spectrum; 2) a rigorously designed, agreed-upon set of experiments that if executed would address key unanswered questions in the field; 3) new collaborations between teams that are directly inspired by the meeting; and 4) dissemination of these ideas via a white paper summarizing themes of the conference and discussion groups, with authorship contributions from a majority of participants, to be submitted to a peer-reviewed journal. This conference is designed to promote discussion among research groups and clinicians working on rare genetic disorders, stimulate collaboration between teams, and facilitate efforts for data harmonization with common measures.
Registration opens in January 2020