Medical & Scientific Advisory Board

I am a geneticist and researcher with board certifications in pediatrics, medical genetics, and molecular genetics. The broad goal of my research is to understand the causes, mechanisms and outcomes of human developmental brain disorders, including brain growth abnormalities (megalencephaly, microcephaly), malformations of cortical development and associated co-morbidities including autism, epilepsy and intellectual disability. My work has led to gene discovery for several disorders associated with brain growth dysregulation including megalencephaly (e.g. PIK3CA, PIK3R2, AKT3, MTOR, CCND2) and microcephaly (e.g. STAMBP, CENPE, KIF11, CDC42), among several others (Mirzaa et al., Neuropediatrics 2004; Mirzaa et al., AJMG 2012; McDonnell et al., Nature Genetics 2013; Mirzaa et al., Pediatric Neurology 2013; Mirzaa et al., Human Genetics 2014; Martinelli et al., American Journal of Human Genetics 2018). My work on the PI3K-AKT-MTOR related brain overgrowth disorders has led to the identification of several genes within this pathway that cause brain growth dysregulation and focal cortical dysplasia, with important therapeutic implications using PI3K-AKT-MTOR pathway inhibitors (Rivière et al., Nature Genetics 2012; Mirzaa et al., Nature Genetics 2014; Jansen et al., Brain 2015; Mirzaa et al., Lancet Neurology, 2015; Mirzaa et al., JAMA Neurology, 2016).

My lab is focused on identifying the molecular and cellular mechanisms of developmental brain disorders and translating these genomic discoveries to molecularly-guided therapies using high throughput genomic, transcriptomic, and proteomic methods in relevant human tissues, combined with functional validation of genetic variants using human reprogramming and genome editing via CRISPR-Cas9 methods. My lab houses the first human stem cell tissue culture facility at the Seattle Children’s Research Institute (SCRI) solely dedicated to generating human induced Pluripotent Stem Cells (iPSCs), Neural Progenitor cells (NPCs), cortical neurons and cerebral organoids to model genetic variants that are of high relevance to neurodevelopmental disorders, and to be used as a platform for future pre-clinical high throughput drug screening.

Dr. Rashmi Mullur, is a Board Certified Endocrinologist, Internist and Integrative Medicine practitioner in Los Angeles, California. She is an Assistant Professor of Clinical Medicine at the David Geffen School of Medicine at UCLA and has an active role leading teaching efforts for medical students. Her clinical practice is located at both the UCLA Diabetes Center in Santa Monica as well as the Veterans Affairs Greater Los Angeles Healthcare System, where she currently serves as the Associate Chief of Integrative Medicine. She received her medical degree from the University of Texas Southwestern Medical School in 2004 and went on to complete her residency and Chief residency in Internal Medicine at Washington University in St. Louis. Since moving to Los Angeles in 2008, she went on to complete training and board certification in both Endocrinology and Integrative Medicine. Besides her role as a doctor, she is also a proud mother of three young sons. Her oldest son was diagnosed with Polymicrogyria and inspires her daily to take a more patient and family centered approach to her practice. She also understands firsthand the struggles as well as the joy that comes along with raising a special needs child, and is eager to help other families with PMG navigate the vast healthcare issues our kids can face.

Dr. Jason T. Lerner, Assistant Professor and Director of Training for Child Neurology at the Mattel Children’s Hospital at UCLA, David Geffen College of Medicine. Dr. Lerner is board certified in Neurology with Special Qualifications in Child Neurology and is also board certified in Clinical Neurophysiology. He completed his pediatric residency at the M.S. Hershey Medical Center at Penn State University, child neurology residency at Montefiore Medical Center, Albert Einstein College of Medicine and pediatric epilepsy/clinical neurophysiology fellowship at the Mattel Children’s Hospital at UCLA, David Geffen College of Medicine. Dr. Lerner currently practices in a large academic institution and sees children with various neurological conditions. He specializes in epilepsy, headache, and traumatic brain injury. His current research involves posttraumatic epilepsy, epilepsy surgery and neurointensive care.