The Bernier Lab has co-hosted several meetings in Seattle for people with mutations in DYRK1A or SCN2A–allowing them to recruit participants for their TIGER study in-person. Some researchers will even co-host these meetings, bringing diagnostic materials and using the events as recruitment opportunities. Their perspectives are invaluable, identifying phenotypic leads that can inspire new and exciting research. Parents will often share unique characteristics that they have noticed in their children, such as the remarkable rate of tooth development in ADNP populations. This helps scientists spot traits that they could not observe otherwise–from how the DYRK1A mutation affects the way children sit to SYNGAP1’s dulling effect on sensory neurons. In these spaces, parents and scientists can collaborate in novel ways, observing autistic children’s behavior in natural settings. These groups can grow so intimate and large that they eventually spawn real-life meetings–and researchers are taking notice. They both nurture conversation and act as information repositories. These groups are often hidden gems of scientific discourse, as parents are thrust into the world of gene science in an effort to understand their children’s needs. Though autism-linked mutations appear in a relatively small portion of the population, online support groups allow distant families to bond over the shared challenges and achievements that come with raising autistic children. This article is relevant to the Bernier Lab as we work closely with research families, many of whom are part of families groups or similar communities. Jessica Wright wrote an article for Spectrum News titled “ Families of disabled children offer new insights into autism genes“. Eva Kurtz-Nelson will be presenting on the “Clinical phenotype of de novo mutations in CHD2.”įamilies offer new insights into autism genes Caitlin Hudac will be presenting on “Examining the Broader Autism Phenotype in the Context of Genetic Etiology.” Poster presentations: 5:30-7:30pm in Room 710.Tamar Kolodny will be presenting on “Typical Cortical Concentration of GABA+ and Glx in Young Adults with Autism Spectrum Disorders” Jen Gerdt s and colleagues will be presenting on “Age-based diagnostic tracks are Effective in Interdisciplinary Team Evaluation for Autism Spectrum Disorder”. Poster presentations: 11:30 am – 1:30 pm.
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