Isabella Herman, MD, PhD

I am a pediatric neurologist and neurogeneticist dedicated to improving the diagnosis, treatment, and understanding of rare neurologic disease. As Director of Clinical Neurogenetics, Director of the Batten Disease Center of Excellence Affiliate Site, and Director of the Angelman Syndrome Clinic at Boys Town National Research Hospital, I lead multidisciplinary programs focused on children with rare genetic, metabolic, neuromuscular, neurodevelopmental, and epilepsy disorders. My clinical practice spans neurogenetics, genetic epilepsy, developmental and epileptic encephalopathies, neurometabolic disorders, spinal muscular atrophy, Batten disease, Angelman syndrome, neurofibromatosis, leukodystrophies, hereditary neuropathies, and undiagnosed rare diseases. I am particularly passionate about caring for patients with complex conditions that require integration of advanced genomic diagnostics, multidisciplinary care, and emerging precision therapies. My research interests center on rare disease gene discovery, genotype-phenotype correlations, novel neurodevelopmental disorders, and the translation of genomic discoveries into meaningful clinical care. Through collaborations with international investigators and rare disease networks, I have contributed to the identification and characterization of numerous genetic conditions affecting the nervous system, helping expand diagnostic opportunities for patients and families worldwide. I completed my MD/PhD through the Medical Scientist Training Program at Baylor College of Medicine, followed by pediatric neurology residency and fellowship training at Texas Children's Hospital and Baylor College of Medicine. I subsequently completed a postdoctoral fellowship in molecular and human genetics focusing on novel disease gene discovery in rare neurodevelopmental disorders. In addition to clinical care and research, I actively participate in clinical trials, advisory boards, and national organizations dedicated to advancing therapies for rare neurologic diseases. My goal is to bridge the gap between genomic discovery and patient care while helping families navigate some of the most challenging diagnoses in pediatric medicine.