Rare Diseases - Diagnosis, Therapies, and Hope

This is a free e-book authored by Ana Sanfilippo and Jimmy Lin, MD, PhD, MHS.  Jimmy Lin is the president of Rare Genomics Institute, a  nonprofit that uses crowdfunding to help find cures for children with rare diseases.  The book includes:

  • an easy-to-understand review of genomics
  • interviews with genomei experts
  • inspiring stories from families living with rare diseases
  • a Parent's Toolkit 
  • links to organizations that aid in the research of rare diseases/syndromes