Catherine Brownstein | Instructor
Manton Center for Orphan Disease Research

Catherine Brownstein, Instructor, Manton Center for Orphan Disease Research

Dr. Brownstein is the Scientific Director for the Manton Center for Orphan Disease Research Gene Discovery Core at Boston Children’s Hospital and Harvard Medical School.  She has been instrumental in the elucidation of several new disease genes for conditions such as intellectual disability, nemaline myopathy, very early onset psychosis, SIDS, and hypophosphatemic rickets. As part of the Innovation and Digital Health Accelerator at Boston Children's Hospital, she is also a conduit between academics and industry, producing innovative technology approaches and partnerships. Dr. Brownstein's current work focuses on advancing the fields of next generation sequencing and analysis.


BioData West: Day 2 @ 11:00

Collaborations with Industry to accelerate rare disease discoveries in the fastest way possible

  • How to structure relationships to protect the interests of all parties when dealing with rare diseases
  • What are the required infrastructure to make partnerships work?
  • Understanding the importance of phenotyping, transparency, and patient engagement

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