Robert J. Hopkin, MD

My Biography & Research

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.

Additional Languages

French

Clinical Interests

Fabry disease and other lysosomal storage diseases; craniofacial genetics; 22q11 deletion; clinical intervention for genetic disease; neurofibromatosis; dysmorphology; prenatal diagnosis of genetic syndromes

Research Interests

Fabry disease; Robin sequence; 22q11 deletion; neurofibromatosis; craniofacial genetics; chromosomal anomalies

Academic Affiliation

Associate Professor, UC Department of Pediatrics

Clinical Divisions

Genetics, Neurofibromatosis, Hereditary Cancer, 22Q-VCFS, Differences of Sex Development, Kidney Stones, Hereditary Hemorrhagic Telangiectasia, Brain Tumor, Craniofacial Disorders, Rasopathy

Research Divisions

Human Genetics

My Locations

Burnet Campus

Burnet Campus

3333 Burnet Ave.

Cincinnati, Ohio 45229-3039

513-636-4200

Directions From

My Education

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.

My Publications

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. Abell, K; Hopkin, RJ; Bender, PL; Jackson, F; Smallwood, K; Sullivan, B; Stottmann, RW; Saal, HM; Weaver, KN. American Journal of Medical Genetics, Part A. 2021; 185:413-423.

Fabry disease and COVID-19: International expert recommendations for management based on real-world experience. Laney, DA; Germain, DP; Oliveira, JP; Burlina, AP; Cabrera, GH; Hong, G; Hopkin, RJ; Niu, D; Thomas, M; Trimarchi, H; et al. Molecular Genetics and Metabolism. 2021; 132.

Migalastat 150 mg every other day achieves bioequivalent exposures in adolescent and adult patients with Fabry disease. Ramaswami, U; Leonowens, C; Goker-Alpan, O; Wilcox, WR; Hopkin, RJ; Sanchez-Valle, A; Schmith, V; Skuban, N; Johnson, F. Molecular Genetics and Metabolism. 2021; 132.

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Li, C; Desai, AK; Gupta, P; Dempsey, K; Bhambhani, V; Hopkin, RJ; Ficicioglu, C; Tanpaiboon, P; Craigen, WJ; Rosenberg, AS; et al. Genetics in Medicine. 2021.

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia. Simpson, BN; Khattar, D; Saal, H; Prada, CE; Choo, D; Marcheschi, L; Wiley, S; Hopkin, RJ. European Journal of Medical Genetics. 2021; 64.

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience. Laney, DA; Germain, DP; Oliveira, JP; Burlina, AP; Cabrera, GH; Hong, GR; Hopkin, RJ; Niu, DM; Thomas, M; Trimarchi, H; et al. CKJ: Clinical Kidney Journal. 2020; 13:913-925.

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype. Hopkin, RJ; Feldt-Rasmussen, U; Germain, DP; Jovanovic, A; Martins, AM; Nicholls, K; Ortiz, A; Politei, J; Ponce, E; Varas, C; et al. Molecular Genetics and Metabolism Reports. 2020; 25.

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. Abell, K; Tolusso, L; Smith, N; Hopkin, R; Vawter-Lee, M; Habli, M; Riddle, S; Calvo-Garcia, MA; Guan, Q; Bierbrauer, K; et al. Birth Defects Research. 2020; 112:1733-1737.

XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing. Kim, A; Abell, K; Johnson, J; Cizek, S; Breech, L; Ernst, MM; Hopkin, RJ; Kennedy, K; Stanek, J; Strine, AC; et al. Pediatrics. 2020; 146.

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup. Germain, DP; Oliveira, JP; Bichet, DG; Yoo, H; Hopkin, RJ; Lemay, R; Politei, J; Wanner, C; Wilcox, WR; Warnock, DG. Journal of Medical Genetics. 2020; 57:542-551.

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