Photo of Ryan Doan
Ryan Doan, PhD, FACMG
Assistant Professor of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital
The Genetics of Neurodevelopment

Neurodevelopmental and neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and obsessive-compulsive disorder (OCD) impact of more than 1 in 16 children and display a strikingly high level of phenotypic diversity that poses a major challenge for genetic studies. Despite the identification of more than 1,000 candidate genes to date, most of the genetic etiology remains undiscovered, resulting in limited genetic testing and poor diagnostic yields for individuals with ADHD, ASD, and OCD. The lack of genetic diagnoses prevents access to benefits including avoiding unnecessary testing, the opportunity to anticipate and assess additional clinical features, and prediction of familial recurrence risks.

The overarching goal of our laboratory is to systematically assess the underlying genetic mechanisms among neurodevelopmental and neuropsychiatric disorders. Through our work with large international ASD consortiums and clinical collaborations, we integrate clinical data, genomic sequencing, evolutionary genetics, and large-scale functional screening to: 1] systematically assess the roles of protein-altering and noncoding transcriptional and translational mutations, 2] investigate the shared and unique genetic etiologies among ADHD, ASD and OCD, 3] provide novel genetic diagnoses for families, 4] develop novel guidelines for interpreting noncoding mutations and 5] advance the understanding of the functional roles of coding and noncoding regions. Even more importantly, by improving diagnostic yield in genomic sequencing, we aim to improve and expand clinical genetic diagnostics. Finally, we hope to provide the essential next steps towards the development of improved therapies and pharmacogenomic testing.