Jessica Wright wrote an article for Spectrum News titled “Families of disabled children offer new insights into autism genes“. 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.
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. 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. They both nurture conversation and act as information repositories.
These groups can grow so intimate and large that they eventually spawn real-life meetings–and researchers are taking notice.
In these spaces, parents and scientists can collaborate in novel ways, observing autistic children’s behavior in natural settings. 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. Parents will often share unique characteristics that they have noticed in their children, such as the remarkable rate of tooth development in ADNP populations. Their perspectives are invaluable, identifying phenotypic leads that can inspire new and exciting research.
Some researchers will even co-host these meetings, bringing diagnostic materials and using the events as recruitment opportunities. 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. Thanks to these families’ cooperation, the number of DYRK1A participants in the TIGER study has swelled by 30%.
Autism research is still a blossoming field, and with the help of parents from around the globe, researchers can now reach populations that have rarely been studied before.