Robert J. Hopkin, MD
- Program Director, Medical Genetics Residency Programs, Division of Human Genetics
- Associate Professor, UC Department of Pediatrics
- rob.hopkin@cchmc.org
- Board Certified
About
Biography
Robert J. Hopkin, MD, is an associate professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center within the University of Cincinnati College of Medicine. Dr. Hopkin graduated from the University of Nevada Medical School. He completed residency and chief residency in pediatrics at the Phoenix Children's Hospital, Maricopa Medical Center Combined Residency Program. His training in medical genetics was completed at Cincinnati Children's Hospital Medical Center.
The majority of Dr. Hopkin's time is spent in caring for patients with genetic disorders. He participates in clinics from Fetal Care to Adult Genetics. He is also actively involved in education of health care providers regarding the application of genetics for patient care. Dr Hopkin has participated in a number of clinical trials and is a member of American College of Medical Genetics Committee on Therapeutics. He has participated in natural history studies on Fabry disease, Pompe disease, velocardiofacial syndrome, Pierre Robin sequence, neurofibromatosis type I, and several other genetic conditions. The unifying principle in his research interests is application of scientific knowledge to improve outcomes for patients afflicted with genetic disorders.
MD: University of Nevada Medical School, Reno, NV, 1990.
Residency: Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1993; Phoenix Children's Hospital, Manicopa Medical Center, Phoenix, AZ, 1994.
Fellowship: Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 1997.
Certification: Pediatrics, 1993; Clinical Genetics, 1996.
Interests
Fabry disease and other lysosomal storage diseases; craniofacial genetics; 22q11 deletion; clinical intervention for genetic disease; neurofibromatosis; dysmorphology; prenatal diagnosis of genetic syndromes
Services and Specialties
Genetics, Neurofibromatosis, Hereditary Cancer, 22Q-VCFS, Differences of Sex Development, Kidney Stones, Hereditary Hemorrhagic Telangiectasia, Brain Tumor, Craniofacial Disorders, Rasopathy
Interests
Fabry disease; Robin sequence; 22q11 deletion; neurofibromatosis; craniofacial genetics; chromosomal anomalies
Research Areas
Human Genetics
Additional Languages
French
Insurance Information
Cincinnati Children's strives to accept a wide variety of health plans. Please contact your health insurance carrier to verify coverage for your specific benefit plan.
Publications
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. Molecular Genetics and Metabolism. 2023; 138.
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. American Journal of Medical Genetics, Part A. 2023; 191:526-539.
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. Molecular Genetics and Metabolism. 2023; 138.
Clinical characteristics of female patients enrolled in the FollowME Fabry Pathfinders registry. Molecular Genetics and Metabolism. 2023; 138.
STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results. Molecular Genetics and Metabolism. 2023; 138.
Congenital Hypothyroidism: Screening and Management. Pediatrics. 2023; 151.
Congenital Hypothyroidism: Screening and Management. Pediatrics. 2023; 151.
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes. Journal of Medical Genetics. 2022.
Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy. International Journal of Molecular Sciences. 2022; 23.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. Journal of Medical Genetics. 2022; 59:1058-1068.
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