Genetic Variations on SETD5 Underlying Autistic Conditions

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.