Bridget Fernandez, MD, MS, is launching an autism genomics clinic at Children’s Hospital Los Angeles, which will provide medical genetics consultations for children with autism spectrum disorder (ASD) and other neurodevelopmental disorders. The clinic will also play a role in her research program, which aims to better understand the genomic underpinnings of ASD.
“Right now, for 2 out of 10 children, whole genome sequencing gives us an answer or a partial answer as to why that individual child developed autism,” says Fernandez, Professor and Attending Physician in Medical Genetics. “But to figure out the genomic and other contributors to autism for the remaining 80% of kids — that requires studying a lot more children.”
Fernandez is leading a multidisciplinary research team that will be studying children with autism. In addition to providing whole-genome sequencing for children and parents, the team will conduct deep medical and neuropsychiatric phenotyping of each affected child, allowing analysis of the genomic data to be maximally informative.
Families referred to her clinic will have the option of participating in the project. “There’s very little genomic data from Hispanic children and families with neurodevelopmental disorders. That’s a big missing piece,” she says. “CHLA’s diverse patient population gives us a great chance to fill that gap.”
