Today, ASF announced that it will be leading the newly-launched Alliance for Genetic Etiologies of Neurodevelopmental Disorders and Autism (AGENDA). This alliance is a partnership of research and advocacy organizations focused on improving outcomes of individuals with all forms of autism by fostering a genetics-first approach to autism science. AGENDA will also work to strengthen collaborations among organizations representing genetically-defined disorders associated with autism. As part of its collaborative activities, today AGENDA launched a new online portal that will make it easier for researchers to investigate different forms of autism. Clinicians, basic scientists, industry, and multiple end users of this information were consulted on the development of the portal, which along with contact information to access the data in each registry, can be found here.
SETD5 is a master regulator of gene activity that controls the activity of potentially thousands of other downstream genes in the same cell. Researchers, supported in part by ASF, found that this gene is associated with a subtype of autism that is seen mostly in males and includes intellectual disability and facial dysmorphology. This is further support of different genes and gene combinations contributing to different features of autism, rather than the entire spectrum. The UC San Diego investigators, including Dr. Isabella Rodrigues Fernandes, ASF Grantee ’17, in this study will continue to investigate this gene and how it affects brain development, which may lead to therapeutic interventions for those who carry this mutation. Read the study here.