Bridget Ann Fernandez, MD, MS, FRCPC, FCCMG, FACMG
Grace Lee, MS, LCGC
Grace Lee is a licensed genetic counselor who obtained her undergraduate degree at University of California, Berkeley. Her graduate training was completed through the Arcadia/ University of Pennsylvania genetic counseling program. Grace works collaboratively with Dr. Fernandez to provide comprehensive genetic counseling to all participating families, including results disclosure from whole genome sequencing and other genetic tests. Her interests include genomic changes that increase susceptibility to the development of autism spectrum disorder and delivery of genetic and other healthcare services families that have traditionally been underrepresented in clinical research.
Karla Paredes Gonzalez, BS
Karla is a recent graduate of the University of California, Riverside where she obtained a BS in Neuroscience. During her undergraduate studies she worked at a children’s mental health facility which sparked her interest in working with children. She plans to attend medical school and specialize in pediatrics. Karla is a native Spanish speaker.
Sharon H. O’Neil, PhD, MHA, ABPP-CN, ABPdN
Dr. O’Neil is the Director of the Neuropsychology Core of the Saban Research Institute at CHLA. She is board certified in Clinical Neuropsychology and Pediatric Neuropsychology and has two decades of post licensure experience as a pediatric neuropsychologist at CHLA. She has extensive training in assessments for autism spectrum disorder (ASD), leading to clinical and research reliability certification in 2015 for the gold standard measure, the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and clinical certification for the Autism Diagnostic Interview-Revised (ADI-R). Dr. O’Neil oversees the neuropsychological testing for participants in the autism project. Assessments are being provided in Spanish and English.
Matthew Deardorff, MD, PhD, FACMG
Dr. Deardorff is a clinical geneticist and Professor of Pathology and Pediatrics at Keck School of Medicine of USC. He is CHLA’s Director for Personalized Care (PCARE) and the medical director of CHLA’s genomic diagnostic lab. In these enterprise leadership roles, he is heavily invested in identifying improved diagnostic and therapeutic strategies for patients with neurodevelopmental disabilities, as well as with using ancestry-specific approaches to improve diagnostic sensitivity of genomic testing. He has extensive expertise in the identification of and analysis of pathogenic mechanisms for mutations that cause rare Mendelian disorders, including conditions associated with intellectual disability and congenital anomalies. He and colleagues from CHLA’s Center for Personalized Medicine work with Dr. Fernandez on the bioinformatic aspects of the autism project.
Avinash Dharmadhikari, PHD, DABMGG, NYCQ
Dr. Dharmadhikari is an Assistant Director with CHLA’s Center for Personalized Medicine (CPM) and an Assistant Professor of Clinical Pathology at the Keck School of Medicine of USC. He completed training in Laboratory Genetics and Genomics (LGG) at Columbia University and has expertise with interpreting complex next-generation sequencing data for patient care. He is a member of the ClinGen Intellectual Disability/ Autism Spectrum Disorder gene curation expert panel. He works with Dr. Fernandez and colleagues at CPM on the autism project to identify medically relevant variants from whole genome sequencing datasets.
Carlos Bustamante, PhD
Dr. Bustamante is a Professor in the Department of Biomedical Data Sciences, Stanford University. For the past 18 years, he has led a multidisciplinary team working on problems at the interface of computational and biological sciences. His research has focused on genomics technology and its application in medicine, agriculture and evolutionary biology. His group has expertise in ancestry-mapping, particularly in Hispanic populations. He is the co-author of the main ancestry-mapping tools being used in the autism project which include RFMix, XGMix, GNOMix and Neural Admixture.
Stephen W. Scherer, PhD
Dr. Scherer is a Distinguished University Professor in the Department of Molecular Genetics, University of Toronto. He is the Director of The Center for Applied Genomics at the Hospital for Sick Children (Canada’s first genome center) and Chief of Research at the SickKids Research Institute. He is the Scientific Director of the Autism Speaks MSSNG whole genome repository. In 2004, he founded the Database of Genomic Variants, the world’s most utilized CNV and structural variation database, which facilitates thousands of clinical diagnoses every day. He and Dr. Fernandez have been collaborating since she was a resident in Medical Genetics at University of Toronto in the late 1990’s. For the current autism project, clinical and genomic data from the prospective Los Angeles Hispanic ASD cohort will be compared to European ancestry datasets that Drs. Scherer and Fernandez generated when she worked in Newfoundland, Canada.