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
Plain Language Summary: Looking at treatment outcomes in people with Fabry disease who started agalsidase beta before the age of 30 years. 2024; 4:2383163.
Complex genomic rearrangements of the Y chromosome in a premature infant. Molecular Cytogenetics. 2024; 17:19.
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease. Journal of Patient-Reported Outcomes. 2024; 8:132.
Listening to patients with suspected genetic diagnoses: A narrative perspective. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2024; 196:e32079.
RMND1 and PLN variants are the underlying cause of Perrault-like syndrome and cardiac anomalies in a patient. Clinical Case Reports. 2024; 12:e9537.
671P Miglustat: a first-in-class enzyme stabiliser for late-onset Pompe disease. Neuromuscular Disorders. 2024; 43:104441.729.
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study. 2024; 2:101891.
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. Journal of medical genetics. 2024; 61:520-530.
Évaluation de l’immunogénicité du programme d’essais cliniques sur la pegunigalsidase alfa : analyse intégrée des anticorps anti-médicaments de novo et renforcés par le traitement. Revue de Médecine Interne. 2024; 45:a222-a223.
Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR). Molecular Genetics and Metabolism. 2024; 141:107884.
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