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
I am an associate professor of clinical pediatrics at Cincinnati Children's within the University of Cincinnati College of Medicine. I graduated from the University of Nevada Medical School and completed my residency and chief residency in pediatrics at the Phoenix Children's Hospital, Maricopa Medical Center Combined Residency Program. My training in medical genetics was completed at Cincinnati Children's.
I spend the majority of my time caring for patients with genetic disorders, participating in clinics from Fetal Care to Adult Genetics. I am also actively involved in educating healthcare providers about the application of genetics in patient care. I have participated in numerous clinical trials and am a member of the American College of Medical Genetics Committee on Therapeutics. My research interests include 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 my research is the application of scientific knowledge to improve outcomes for patients 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
- Brain and Spine Tumors
- CHARGE Syndrome
- Cleft and Craniofacial Center
- Differences of Sex Development (DSD) Center
- Epigenetic Syndromes
- Hereditary Cancer
- HHT (Hereditary Hemorrhagic Telangiectasia)
- Human Genetics
- Lysosomal Storage Disorder
- Neurofibromatosis
- Rare Genetic Diseases
- Rasopathy
- Stone Center
- The 22Q-Velocardiofacial Syndrome Center
Interests
Fabry disease; Robin sequence; 22q11 deletion; neurofibromatosis; craniofacial genetics; chromosomal anomalies
Research Areas
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.
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2024; 196:e32095.
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.
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.
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