Medical Genetic Physician and Rare Disease Expert

Specialties & Experience of this Expert Witness

Additional Information

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 impact of genetic variants and to test gene function in disease pathways. This work is used to help determine whether specific genetic changes are likely to be disease-causing by assessing their effects on organism-level biological function. I am an investigator in large-scale genomic initiatives, and I serve on scientific advisory boards supporting families, clinicians, and patient advocacy groups in rare disease diagnosis. In consulting and expert review work, I provide clear, structured written reports and opinions that explain complex genetic data in precise, understandable terms without oversimplification. My work includes interpretation of genomic testing, assessment of variant pathogenicity, and evaluation of genetic causation in rare and neurodevelopmental disorders.