Rady Children’s Health Orange County &
UC Irvine Rare Disease Symposium &
Family Conference

Dr. Bodamer obtained his M.D. degree from the University of Heidelberg, Germany and his Ph.D. degree from the University of Saarland, Germany. Following Pediatric residencies in Germany and in London, he moved to the United States for postdoctoral training in Clinical and Biochemical Genetics at Baylor College of Medicine, Houston, Texas. In 2010, he joined the University of Miami as the founding Chief of the Division of Clinical and Translational Genetics and Director of the Medical Genetics Laboratories.

Dr. Bodamer was recruited to Boston Children’s Hospital in 2015, where he established a translational research laboratory with a focus on different rare disorders. Dr. Bodamer is the founding Director of the NORD center of excellence for rare disorders at Boston Children’s Hospital. 

Dr. Bodamer has a busy clinical practice at Boston Children’s Hospital where he sees patients with complex genetic disorders including Kabuki syndrome and other epigenetic disorders. In 2017, Dr Bodamer founded the Roya Kabuki Program at Boston Children’s Hospital with a focus on integrated clinical care and research to improve health outcomes and to ultimately identify novel therapies. He is active in several areas of translational genetics and genomics, patient advocacy and teaching within Harvard Medical School, the Broad Institute of Harvard University and the Commonwealth of Massachusetts.

Dr. Walla Al-Hertani is Chief of the Metabolic Disorders Division and Medical Director of Metabolic Disorders at Children’s Hospital of Orange County (CHOC). Prior to her role at CHOC, she held the Harvey Levy Endowed Chair in Metabolism, was an Associate Professor at Harvard Medical School and was the Medical Director of the Metabolism, Lysosomal, Glycogen Storage Disease and the Metabolism Newborn Screening diagnostic follow- up programs at Boston Children’s Hospital (BCH).

Dr. Al-Hertani received her Doctor of Medicine degree from Dalhousie University in Halifax, Nova Scotia, followed by the completion of a Medical Genetics residency at the University of Ottawa and a Medical Biochemical Genetics fellowship at the Hospital for Sick Children and the University of Toronto. She has been a practicing Clinical Geneticist and Biochemical Geneticist for the past 15 years and has worked in various health systems across Canada and the US.

Jon Bernstein is a Professor of Pediatrics and by courtesy of Genetics at the Stanford School of Medicine.  He serves as Chief of the Division of Medical Genetics in the Department of Pediatrics. His research focuses on the diagnosis, discovery and delineation of genetic syndromes with a focus on neurodevelopmental conditions.  Current research includes the Undiagnosed Diseases Network, the GREGoR consortium, the TRIOS study of recurrent pregnancy loss and the NIH RDCRN Developmental Synaptopathies Consortium study of Phelan-McDermid syndrome.  Dr. Bernstein’s clinical work encompasses his practice as a medical geneticist and medical direction of the Stanford Cleft and Craniofacial Center. 

Dr. Fuki M. Hisama is a distinguished clinician-scientist and professor in the Department of Pediatrics at the University of California, Irvine School of Medicine.  She earned her M.D. from the University of Chicago Pritzker School of Medicine and completed her neurology residency at Yale-New Haven Hospital, followed by a fellowship in medical and human genetics at Yale University.  Board-certified in both neurology and clinical genetics, Dr. Hisama has extensive clinical and research experience in neurogenetics, cancer genetics, precision medicine, and rare disorders. Her work has spanned adult and pediatric populations, and she is known for bridging genomic medicine into patient care.  With over 175 peer-reviewed publications, Dr. Hisama has held leadership roles in large genomic and neurogenetics studies. Her recent work includes efforts to apply long-read sequencing technologies to rare disease diagnosis.

Matthew A. Deardorff, MD, PhD, FACMG is a clinical geneticist and physician-scientist at Children’s Hospital Los Angeles, where he serves as Director of Translational Genomics and leads the Personalized Care (PCARE) Program. His work focuses on rare syndromic disorders, integrating genomic discoveries into clinical care to improve diagnosis, treatment, and outcomes for children with genetic conditions. Dr. Deardorff earned his MD and PhD from the University of Pennsylvania and completed training in Pediatrics, Medical Genetics & Genomics, and Human Genetics. He is actively involved in translational research, patient-centered initiatives, and collaborations with families and support groups to advance the understanding and management of rare diseases. At the symposium, he will share insights from his work in rare disease genomics and personalized care.

Dr. Fuki M. Hisama is a distinguished clinician-scientist and professor in the Department of Pediatrics at the University of California, Irvine School of Medicine.  She earned her M.D. from the University of Chicago Pritzker School of Medicine and completed her neurology residency at Yale-New Haven Hospital, followed by a fellowship in medical and human genetics at Yale University.  Board-certified in both neurology and clinical genetics, Dr. Hisama has extensive clinical and research experience in neurogenetics, cancer genetics, precision medicine, and rare disorders. Her work has spanned adult and pediatric populations, and she is known for bridging genomic medicine into patient care.  With over 175 peer-reviewed publications, Dr. Hisama has held leadership roles in large genomic and neurogenetics studies. Her recent work includes efforts to apply long-read sequencing technologies to rare disease diagnosis.

Olivia Kim McManus, MD, is a board-certified child neurologist specializing in the care of infants, children, and adolescents with neurological disorders, particularly epilepsy and medically refractory epilepsy. She has extensive expertise in clinical trials, clinical neurophysiology and epilepsy surgery, including invasive intracranial EEG monitoring and intraoperative electrocorticography. Dr. Kim McManus serves as an Associate Professor in the Department of Neurosciences and ACGME pediatric epilepsy fellowship director.  She primarily cares for patients at Rady Children’s Hospital–San Diego and directs the Rady Precision Therapeutics Neuro-Interventional Program.  Her research focuses on the development and delivery of novel genetic therapies for rare epilepsies and neurodegenerative disorders, intracranial EEG monitoring, and epilepsy surgery.  Dr. Kim McManus completed her undergraduate degree in Neurosciences at Columbia University, medical degree at The George Washington University School of Medicine, residencies in pediatrics and neurology at Children’s Hospital Los Angeles, and fellowships in epilepsy and clinical neurophysiology at UC Irvine. She is triple board-certified in neurology with special qualification in child neurology, epilepsy, and clinical neurophysiology.

Dr. Fuki M. Hisama is a distinguished clinician-scientist and professor in the Department of Pediatrics at the University of California, Irvine School of Medicine.  She earned her M.D. from the University of Chicago Pritzker School of Medicine and completed her neurology residency at Yale-New Haven Hospital, followed by a fellowship in medical and human genetics at Yale University.  Board-certified in both neurology and clinical genetics, Dr. Hisama has extensive clinical and research experience in neurogenetics, cancer genetics, precision medicine, and rare disorders. Her work has spanned adult and pediatric populations, and she is known for bridging genomic medicine into patient care.  With over 175 peer-reviewed publications, Dr. Hisama has held leadership roles in large genomic and neurogenetics studies. Her recent work includes efforts to apply long-read sequencing technologies to rare disease diagnosis.

Manish J. Butte, MD, PhD is the E. Richard Stiehm Endowed Chair and Professor with tenure in the Department of Pediatrics at UCLA, and Division Chief of Immunology, Allergy, and Rheumatology. He has a joint appointment in the Departments of Human Genetics and Microbiology, Immunology, and Molecular Genetics. He studied Physics and also earned his MD at Brown University. He then did a PhD at UCSF. Returning to clinical training, he completed a Pediatrics residency at the Children's Hospital of Philadelphia and a clinical fellowship in Allergy & Immunology at Boston Children's Hospital. He did post-doctoral research at Harvard. He spent his junior faculty years at Stanford University (2009-2016) and moved to UCLA in late 2016. His lab studies T cells with a recent focus on the underlying genetics and immunology of Valley fever. His clinical focus is on inborn errors of immunity and immune dysregulation.

Dr. Fuki M. Hisama is a distinguished clinician-scientist and professor in the Department of Pediatrics at the University of California, Irvine School of Medicine.  She earned her M.D. from the University of Chicago Pritzker School of Medicine and completed her neurology residency at Yale-New Haven Hospital, followed by a fellowship in medical and human genetics at Yale University.  Board-certified in both neurology and clinical genetics, Dr. Hisama has extensive clinical and research experience in neurogenetics, cancer genetics, precision medicine, and rare disorders. Her work has spanned adult and pediatric populations, and she is known for bridging genomic medicine into patient care.  With over 175 peer-reviewed publications, Dr. Hisama has held leadership roles in large genomic and neurogenetics studies. Her recent work includes efforts to apply long-read sequencing technologies to rare disease diagnosis.

The Marazzi Laboratory studies epigenetic and chromatin-mediated control of gene expression. We are interested in how mutations cause infection, inflammatory and neurodegenerative diseases.

Dr. Virginia E. Kimonis is a board-certified UCI Health clinician-scientist specializing in the diagnosis and treatment of children and adults with neuromuscular, neurodegenerative, and other complex genetic disorders. Her research focuses on inherited muscle and lysosomal storage diseases, including Pompe disease, Prader-Willi syndrome, and multisystem proteinopathy linked to VCP mutations. She developed the Lysosomal Disease Program, established a Pompe disease registry, and led clinical studies on enzyme replacement and resistance training therapies.

Dr. Kimonis earned her medical degree from the University of Southampton, completed her pediatrics residency at Massachusetts General Hospital, and a genetics fellowship at the NIH and Children’s National Hospital. She has authored over 175 peer-reviewed publications and received funding from the NIH, the Muscular Dystrophy Association, and other rare disease foundations. Dr. Kimonis also serves as a lead investigator at the NORD Rare Disease Center of Excellence, a joint initiative of UCI Health and CHOC.

Dr. Virginia “Ginny” Muscatello is the Manager of Research Education in the Research Institute at Rady Children’s Health Orange County (formerly CHOC), where she leads the development of research education infrastructure to strengthen physician-investigator, clinical research coordinator, and clinical fellow trainee learning throughout the research ecosystem. Her work focuses on building research capacity, standardizing research training, and the integrating educational design principles into clinical research operations.

Dr. Muscatello earned her PhD in Education, specializing in Human Development and Psychology, from the University of California, Los Angeles (UCLA). At UCLA, she continues to serve as a Lecturer in the Department of Psychology, where she teaches undergraduate courses in research methods and psychological statistics. Her work bridges education and research to promote competency-based training and advance the execution of high-quality clinical research and workforce development in pediatric healthcare.

Dr. Virginia “Ginny” Muscatello is the Manager of Research Education in the Research Institute at Rady Children’s Health Orange County (formerly CHOC), where she leads the development of research education infrastructure to strengthen physician-investigator, clinical research coordinator, and clinical fellow trainee learning throughout the research ecosystem. Her work focuses on building research capacity, standardizing research training, and the integrating educational design principles into clinical research operations.

Dr. Muscatello earned her PhD in Education, specializing in Human Development and Psychology, from the University of California, Los Angeles (UCLA). At UCLA, she continues to serve as a Lecturer in the Department of Psychology, where she teaches undergraduate courses in research methods and psychological statistics. Her work bridges education and research to promote competency-based training and advance the execution of high-quality clinical research and workforce development in pediatric healthcare.