Institute of Rare diseases
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.
- 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
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)
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