Online. Last week, we held the first online symposium on “Rare Genetic Variants Associated with Neurodevelopmental Disorders”. The meeting covered seven topics which included different genomic approaches used to unravel the genetic architecture of neurodevelopmental disorders and cognitive traits. In total, 117 participants joined the meeting with a peak of 72 participants listening to a presenter.
The meeting started with a general introduction to rare variant testing presented by Manuel Rivas (Broad Institute of Harvard and M.I.T.) (Link: Talk). In the second talk Giulio Genovese (Broad Institute Harvard and M.I.T.) presented the largest schizophrenia exome sequencing study to date, and discussed how coding ultra-rare variants fit in the bigger picture of the genetics of this disorder (Link: Talk). In the third presentation, Jack Kosmicki (Broad Institute of Harvard and M.I.T.) presented rare variant burden analysis in 3982 autism spectrum disorders families, where he showed that variants found in the general population can help identify disease associated genes (Links: Talk; Paper). In the fourth presentation, Andrea Ganna (Broad Institute Harvard and M.I.T.) demonstrated that rare damaging variants are not only associated with disease but also affect the educational attainment in >16,000 individuals tested (Link: Talk; Paper). In the fifth presentation, Slave Petrovski (Institute for Genomic Medicine (C.U.M.C.) and the Epi4K Consortium) presented that large scale screens in common epilepsy types can identify disease associated genes and that these genes resemble those previously identified in severe Mendelian forms of epilepsy (Talk (under embargo, will be added later)). In the sixth talk, I (Dennis Lal, Broad Institute Harvard and M.I.T.) presented a novel approach to identify disease associated genes in >10,000 trios of epilepsy, autism and developmental delay patients by taking gene family information into consideration. I discussed how the developed method can guide interpretation of rare variants (Talk (under embargo, will be added later)). Finally, Verneri Anttila (Broad Institute Harvard and M.I.T.) closed the session with a broad lecture about the importance of common genetic variants in the etiology of neurodevelopmental disorders (Link: Talk).
Considering the amount of positive feedback received, the upcoming online symposia about neurodevelopmental disorders will include topics in “Copy Number Variants (CNVs)”, “Common Variants” and “Phenotypes for Non-Clinicians”. For additional suggestions and comments, feel free to send them to me via email.