Rare Disease Expert Witnesses

Coronado, California

Pediatric Hospitalist, Epidemiology - Birth Defects, Teratogens, Pharmacovigilance, Genetics, Autism, Rare Disease, Prematurity, Birth trauma, Asthma, Neonatology, Adolescence, Ingestions, Respiratory failure, Vaccines, Artificial Intelligence, Misdiagnoses, Sudden Infant Death, Electronic Medical Records, Congenital heart defects, Infectious diseases

Physician Scientist with more than 30 years of experience. Expertise in clinical medicine, and clinical and translational research, including pediatrics, neonatal medicine epidemiology, precision health, rapid whole genome sequencing, and clinical informatics. Pediatric Hospitalist for 29 years during which served as expert witness for individual cases, class action suits, and pharmacovigilance duties. Inaugural Director of multiple NIH and CDC-funded Centers of Excellence. Experienced national and international public speaker, lecturer, and moderator. Demonstrated success obtaining, sustaining and growing state and federal funding for research and public health programs. Executive level leadership of research programs, including regulatory infrastructure, in large university setting resulting in implementation of innovative clinical research programs among large multi-disciplinary faculty. Additional collaborative projects with Pharma on clinical trials, natural history studies fo...

Lebanon, New Hampshire

Pharmacist - Specialty Pharmacy, Ambulatory Pharmacy, Clinical Pharmacy Practice, Biologic & Biosimilars, Weight Loss, Inflammatory & Autoimmune, Oncology & Hematology, Cardiology, HIV and Infectious Diseases, Rare Disease, Cystic Fibrosis and Pulmonary, Pharmacy Standards of Care, Multiple Sclerosis, Seizure disorder

Dr. Gabrielle Plaia is a board-certified specialty pharmacist with extensive experience in the direct care of patients across all major specialty pharmacy disease states, including but not limited to autoimmune, oncology, infectious disease, and rare disease populations. Actively practicing in both ambulatory and specialty pharmacy settings through patient care, she brings current, real-world insight into patient management, therapy access, and clinical outcomes. She currently serves as Clinical Lead for Specialty Pharmacy Outcomes and Research at Dartmouth Health, where she spearheads initiatives to measure and improve patient care quality and outcomes tied to specialty therapies. Additionally, she serves as the lead clinical formulary subject matter expert for Dartmouth Health’s ambulatory clinics, responsible for presenting therapeutic and economic data to inform formulary strategy across more than thirty clinics in the network. She is an active member of the Vanderbilt Health S...

Houston, Texas

Medical Genetics - Rare Disease, undiagnosed disease, Genetic testing, genetic diagnostics, Whole Exome, Autism genetics, Whole Genome, ID genetics

Physician-scientist and medical geneticist with clinical, research, and academic expertise in human genetics and genomic medicine. I am in academic medicine and research and I practice medical genetics and conduct translational research in rare genetic disorders. My expertise is in clinical genomic interpretation, including evaluation of sequencing data, variant classification, and integration of genetic findings with clinical phenotypes. I specialize in rare Mendelian disease, neurodevelopmental disorders, and the genetic basis of autism spectrum disorders. I have contributed to the discovery and characterization of multiple disease-causing genes and mechanisms in rare disease, including ACTG2, MRTFB, EBF3, EZH1, and NACC1, and have participated in research involving CACNA1A, AHDC1, DNM1L, and peroxisomal genes including PEX1, PEX2, and PEX16. In addition to human genetic studies, I use functional model systems, including Drosophila (fruit fly) models, to evaluate the biological...