Dr Mathew Pletcher | Head of Rare Disease Discovery

Dr Mathew Pletcher, Head of Rare Disease Discovery, Roche

Mathew Pletcher currently serves as the Head of Rare Disease - Discovery for Roche, directing early drug development and research activities for rare neuromuscular, neurodevelopmental, and ophthamological diseases including spinal muscular atrophy, Duchenne muscular dystrophy, myotonic dystrophy, and Angelman Syndrome. Mathew received a Ph.D. in human genetics from the Johns Hopkins School of Medicine and conducted post-doctoral fellowship at Genomics Institute of the Novartis Research Foundation, publishing the first haplotype map of mouse inbred strains. After establishing his own laboratory at the Scripps Research Institute in Florida and acting as the director of its Genetics and Genomics Core Facility, Mathew joined Pfizer Global Research and Development, eventually serving as Director of Medical Genetics for Pfizer's Rare Disease Research Unit.  Most recently, Mathew served as the Chief Science Officer for Autism Speaks, the world's largest advocacy and research organization for autism.   As part of this role, he led MSSNG, a collaboration between Autism Speaks, Google, and the Hospital for Sick Children, to make available in an open-access database over 10,000 whole genome sequences from families with autism.  He has also founded the RDH12 Fund for Sight, a non-profit organization devoted to the development of a gene therapy for a genetic form of Leber Congenital Amaurosis, a congenital blinding disorder and holds an adjunct appointment with the University of North Carolina


Day 2 Orphan 15th Nov @ 08:35

Executive industry discussion: Intentions of pharmaceutical companies developing treatments for rare disease patients – What do they hope to achieve?

  • The evolving role of pharma and multi-stakeholders
  • What are the challenges?
  • What are the options moving forward?
  • How do we work together to improve this?

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