I am a Clinical Geneticist serving now as a full time global Medical Director at Shire, office based in the Greater Boston area. My expertise is in diagnosis and management of adults and children with birth defects and genetic disease. My role at Shire entails providing medical support to health care professional's and local Shire medical teams
I am a Clinical Geneticist serving now as a full time global Medical Director at Shire, office based in the Greater Boston area. My expertise is in diagnosis and management of adults and children with birth defects and genetic disease. My role at Shire entails providing medical support to health care professional's and local Shire medical teams worldwide on rare disease states and their treatment within the Shire Rare Diseases Business unit. My current global responsibilities cover the Asia Pacific, North America and Latin America. I also provide cross-functional medical support to Shire Business Development, Clinical, Research, Commercial and Regulatory teams. As the Fabry disease physician on the Global Medical Team, I interact with global Fabry disease experts and manage Shire sponsored Fabry disease investigator initiated clinical trials and screening programs. I spent 18 months as the interim Fabry Franchise Medical Director, responsible for global medical plans, life-cycle management and global budgets. Previous to my work at Shire, I was a Professor of Pediatrics at Saint Louis University School of Medicine in Missouri, where I worked in the Division of Medical Genetics. During my tenure at both Saint Louis University and Washington University in St. Louis, I supervised the treatment of children with lysosomal storage diseases and was a principal investigator in numerous pharmaceutical company clinical trials involving therapies for MPS I, MPS II, Pompe disease, and Fabry disease. I have served on the Missouri State Genetics Advisory Board and Newborn Screening Committee, and I sit on the Editorial Board of the American Journal of Medical Genetics. I recently completed an 8 year tenure as Board Director for the American College of Medical Genetics and Genomics (ACMG) and a 4 year tenure as Board Director for the ACMG Foundation.
Specialties: Rare genetic diseases/orphan genetic diseases
Global Medical Director @ Support the scientific, clinical and medical needs of the Fabry Franchise on a Global basis From 2008 to Present (7 years) Greater Boston AreaGlobal Fabry Franchise Medical Lead @ Supported the medical needs of the Fabry Franchise in development of the Specific Product Plan, Life Cycle Management, and 2012/2013 budget. From 2011 to 2012 (1 year) Greater St. Louis AreaDivision of Medical Genetics @ Professor of Pediatrics From 2007 to 2008 (1 year) Division of Medical Genetics @ Clinical Chief and Residency Director From 1999 to 2007 (8 years)
Doctor of Medicine (MD), Medicine @ University of UtahClinical Genetics Residency Program @ University of California, San DiegoPediatrics Residency Program @ University of California, San DiegoMaster of Science (MS), Genetic Counseling/Counselor @ University of California, BerkeleyBachelor of Science (BS), Genetics @ University of California, Irvine Rick Martin is skilled in: Clinical Research, Clinical Trials, Genetics, Medicine, Medical Affairs, Genomics, Pediatrics, Treatment, Clinical Development, Biotechnology, Pharmaceutical Industry, Medical Genetics, Rare Diseases, Drug Development, Lifesciences
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