Get the Free 150 Page Rare Diseases E-Book

Rare Diseases – Diagnosis, Therapies and Hope
This is a rare diseases E-Book focused on all rare disease audiences and includes:

  • Ten case studies of amazing discoveries from rare disease families
  • Many interviews with top doctors, researchers and genomics experts
  • A Rare Disease Parent’s Toolkit with recommendations from parents and others
  • Demystifying Genomics, which simply explains the latest revolution in medicine with plenty of information on how the sequencing process works.

Download the 150 Page EBook

Ana Sanfilippo, Jimmy Lin Diagnosing Rare Diseases E-Book
See these amazing 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 many rare disease drugs and therapies.
    • Nobel Prize winner Dr. Kary Mullis talks about his foundational genomics discovery and what rare disease parents should do.
    • 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.
    • An interview with RGI founder Dr. Jimmy Lin who talks about his innovative model for funding 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 leads 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.

Get Free E-Book Updates and Our Rare Disease Newsletter

First Name (required)

Last Name (required)

Email (required)

Tell us what you are interested in

NOTE: Once you click on the Submit button, you will be redirected to the PDF file in just a few seconds.


Another Free E-Book Also Available:
Diagnosing Rare Diseases (RGI Version)

It includes almost everything in the book above and 40 pages of additional information on how Rare Genomic Institute (RGI) helps patients to connect to top scientists, receive crowdfunding and get sequenced.

Download the 150 Page E-Book

Download the 150 Page E-Book

Rare Genomics Institute

Donate to RGI