|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.
|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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