Get the Free 150 Page Rare Diseases E-Book

Rare Diseases – Diagnosis, Therapies and Hope
This is an free e-book on rare diseases written in a way that is easily accessible for all audiences. The book includes:

  • Ten case studies about breakthrough discoveries for rare disease patients
  • Many interviews with top doctors, researchers, and genomics experts
  • A Rare Disease Parent’s Toolkit with recommendations from parents and others
  • Demystifying Genomics, which explains in simple terms the latest developments in rare disease treatment and research, including information on how the sequencing process works.

Download the 150 Page EBook

Ana Sanfilippo, Jimmy Lin Diagnosing Rare Diseases E-Book
Read about these inspiring stories in the book:

    • Dallas police officer Mark Dant talks about how he raised over $3M to fund the rare disease research that saved his son Ryan’s life.
    • Dr. Emil Kakkis discusses his development of several rare disease drugs and therapies.
    • Nobel Prize winner Dr. Kary Mullis talks about his foundational genomics discoveries and what rare disease parents should do to ensure the best treatment for their child.
    • Retta Beery explains how she saved her twin’s lives through her own medical research – and how her story saved other children’s lives.
    • John Crowley discusses his amazing story of how he saved his children’s lives through developing new drugs that are now the standard of care for Pompe Disease – his story was seen in the movie Extraordinary Measures.
    • RGI founder Dr. Jimmy Lin describes his innovative model for funding research and analyzing rare diseases in children.
    • Amylynne Santiago Volker tells the story of how her son was the first child saved through sequencing clinically – and how he would not be alive without it.
    • Dr. Eric Topol of Scripps discusses the revolution in genomics and wireless technology and how this has led to better diagnoses and therapies for undiagnosed diseases.
    • Dr. Ada Hamosh, Clinical Director of Genetic Medicine at Johns Hopkins Hospital, shares her advice for parents of kids with rare and undiagnosed diseases.
    • The story of Maya Nieder, who was the first crowdfunded gene discovery.

This book, Rare Diseases – Diagnosis, Therapies and Hope, was written by Ana Sanfilippo and Dr. Jimmy Lin, President of RGI. Please consult medical personnel for any medical conditions or advice.

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Another Free E-Book Also Available:
Diagnosing Rare Diseases (RGI Version)
This book includes almost everything in the book above plus 40 pages of additional information on how the Rare Genomic Institute (RGI) helps patients connect with top scientists, receive crowdfunding donations, and pursue genomic sequencing.Download the 150 Page E-Book
Download the 150 Page E-Book

Rare Genomics Institute

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