RESEARCH Interests

 

Translational Genomic Medicine

We are developing methods and models for applying genomics to the care of patients and conversely, accelerating translational discovery by integrating research with patient care. Examples include a pilot of genome sequencing as a replacement for newborn screening, the deployment of rapid turnaround exome sequencing in the NICU, and the development of a unified hospital portal for accessing, sharing, and interpreting human genomic data for clinical and research use. 

See an example of our work featured in genomeweb.

Autism gene discovery

We apply whole exome and genome sequencing to study large cohorts of children with Autism Spectrum Disorder, in order to shed light on its genetic architecture and to find new autism genes. A particular focus of our group is the study of "human gene knockouts" --  genes inactivated by biallelic or recessive mutations -- in autism cohorts. These mutations are rare but can provide critical mechanistic insights by implicating critical neurobiological pathways in autism pathogenesis.    

GENOTYPE-PHENOTYPE CORRELATIONS AND NEUROBIOLOGical modeling

After finding genetic mutations, we turn to careful clinical characterization of affected patients, to define phenotypes associated with new autism syndromes. We then study these mutations using human cell culture, patient IPS-derived neurons, and mice to understand how these mutations impact brain development and function. 

Rare pediatric disease

Our laboratory studies other rare mutations that link together classic neurobiological signaling pathways with previously unappreciated human phenotypes, including axon guidance and interhemispheric brain connectivity, cholesterol biosynthesis and autism, and nitric oxide signaling and intellectual disability.