© 2019 Tyrosinemia Society, Inc.

Dr. Jeffrey Chinsky, MD

MD, Ph.D., FAAP, FACMG

Medical/Scientific Advisory Board Member

Dr. Chinsky is an Associate Professor of Pediatrics and Affiliate member of the Institute of Genetic Medicine at Johns Hopkins University School of Medicine, Baltimore MD, USA .  He has 20 years experience with patients who have Tyrosinemia Type 1 (HT-1) who presented in several different fashions at different ages and have needed attention to various complications. He received his Pediatrics and Genetics Residency and Fellowship training at Baylor College of Medicine.  He is a Diplomate of the American Board of Pediatrics (board certified in Pediatrics since 1988 and member of the American Academy of Pediatrics (AAP)) and was a Founding Fellow of the American College of Medical Genetics in 1993 (ACMG, now American College of Medical Genetics and Genomics), with board certification in Clinical Genetics and Clinical Biochemical/Molecular Genetics by the American Board of Medical Genetics since 1990.  He is a member of the Society for Inherited Metabolic Disorders (SIMD).  He has ongoing clinical and research interests in patients with various inborn errors of metabolism, including HT-1.  He is a consultant with Swedish Orphan Biovitrum AB (SOBI) and CYCLE Pharmaceuticals, INC, two manufacturers of forms of nitisinone used to treat patients with HT-1.  Dr. Chinsky was an active participant in the medical committee of experts in HT-1 from the US and Canada tasked with reviewing and publishing the recent North American Guidelines for Diagnosis and Treatment of Tyrosinemia Type I.  The citation for this clinical resource can be found below: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729346/

 

Chinsky JM, Singh R, Ficicioglu C, Calikoglu M, Grompe M, Mitchell G, van Karnebeek CDM, Waisbren S, Wasserstein M, Coakley K, Scott CR:  Diagnosis and Treatment of Tyrosinemia Type I: A United States and Canadian Consensus Group Review and Recommendations Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.101. Epub 2017 Aug 3. Review. PMID: 28771246 Free PMC Article (based on literature review, practitioner management survey, and expert opinion meetings)