Give by midnight, Nov. 28, and your gift will be DOUBLED for kids! For every gift of $35 or more, a special My Paw in Yours Puppy will go to a patient.
New Faculty Spotlight: Bridget Fernandez, MD, MS
Professor, Medical Genetics and Associate Director of Clinical Research, TSRI
Dr. Fernandez is launching CHLA’s first-ever Autism Genomics Clinic, 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,” she says. “But to figure out the genomic and other contributors to autism for the remaining 80% of kids—that requires studying a lot more children.”
Dr. 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. He co-investigators include Drs. Douglas Vanderbilt, Sharon O’Neil, Pat Levitt, Matt Deardorff, Xiaowu Gai, Jaclyn Biegel and Sahana Nagabhushan Kalburgi.
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.”
Dr. Fernandez joined CHLA in September 2020 after 20 years at Memorial University Newfoundland Faculty of Medicine, where she was Chair of the Discipline of Genetics. One thing she loves about CHLA: the highly collaborative research environment. In her role as TSRI’s Associate Director of Clinical Research, Dr. Fernandez is working to further strengthen research infrastructure and reduce barriers to initiating patient-related studies, particularly for junior faculty.
Born in Sheffield, England, she grew up in Montreal and Newfoundland in Canada. She and her husband, Matt Deardorff, both joined CHLA last year. One of her daily joys? Taking their 10-month-old puppy for walks in the morning and evening—year-round. “This is such a beautiful city,” she says. “I don’t think I’ll ever get used to how much sunshine there is!”