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
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension. Molecular Genetics and Metabolism. 2025; 145:109102.
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression. American Journal of Medical Genetics, Part A. 2025; 197:e64000.
Miglustat: A First-In-Class Enzyme Stabilizer for Late-Onset Pompe Disease (P10-2.012). Neurology. 2025; 104.
Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency. Frontiers in Pediatrics. 2025; 13:1549400.
Plain Language Summary: Looking at treatment outcomes in people with Fabry disease who started agalsidase beta before the age of 30 years. Future Rare Diseases. 2025; 4:2383163.
Improved growth in children with Fabry disease during treatment with agalsidase beta: A Fabry Registry analysis. Molecular Genetics and Metabolism. 2025; 144:108819.
Evaluating the relationship between infusion-related reactions and anti-drug antibody status: Results from 111 patients with Fabry disease treated with pegunigalsidase alfa. Molecular Genetics and Metabolism. 2025; 144:108768.
Miglustat: A first-in-class enzyme stabilizer for late-onset Pompe disease. Molecular Genetics and Metabolism. 2025; 144:108766.
Quality of life of migalastat-treated adolescents with Fabry disease: Results from the ASPIRE study and open-label extension. Molecular Genetics and Metabolism. 2025; 144:108769.
Long-term safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from the ASPIRE study and open-label extension. Molecular Genetics and Metabolism. 2025; 144:108910.
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