Guest: C. Jimmy Lin, M.D., Ph.D, Founder of the Rare Genomics Institute (RGI)
There are an estimated 7,000 rare diseases. In the U.S., a rare disease is defined as one affecting less that 200,000 people, or 1 in 1,500 of the American population. Rare diseases are often referred to as neglected diseases because over the years they have not received the same amount of research as a common disease like cancer.
However, this is changing. In 1983 the U.S. Congress passed the Orphan Drug Act to facilitate the development and commercialization of drugs to treat rare diseases. As part of the Act and subsequent amendments, these drugs receive special exclusivity rights and an easier path to approval at the FDA. And in fact over the past five years more of the large pharmaceutical companies which in the past neglected these diseases have taken them on, producing new drugs that are highly profitable.
In addition, basic understanding of the human body has deepened with the advancement of new technologies, such as DNA sequencing. Many rare diseases are monogenic, and therefore much easier to identify and research than a disease such as diabetes which is caused by many factors. More and more, parents with children of rare diseases are learning about the advancement in basic biological science and the new tools used by scientists. These informed parents are pushing their doctors to come up with answers.
This is a series of interviews, each based on a different area of research or technology which is creating new avenues and promise for those with a rare disease.
Part 2: Proteomics, Metabolomics, and Beyond: Mike Snyder, Director, Stanford Center for Genomics and Personalized Medicine
Part 3: Stem Cells: Larry Goldstein, Director, UCSD Stem Cell Program
Part 4: Using Animal Models: Cat Lutz, GRS Repository Director, Jackson Laboratory
Part 5: Biobanking and Disease Registries: Liz Horn, Patient Advocate
Part 6: Drug Repurposing: Barry Bunin, CEO, Collaborative Drug Discovery
The first step for any patient is to receive a proper diagnosis. This can be quite an odyssey for those with a rare disease. We explore how genomics and other 'omics, such as proteomics and metabolomics are leading researchers to be able to diagnose and better understand a rare disease or syndrome. And we look into various new therapies from stem cell transplants to gene therapies which are offering hope to those with a diagnosis. Finally we pursue the topic of drug repurposing, or finding new uses for drugs that were abandoned in other trials or that are already approved and on the market which may be useful with a newly diagnosed disease.
Free eBook published by Rare Genomics Institute
It is now estimated that 30% of children with a rare disease do not live past the age of five. But this number is changing. Never has there been more promise for parents and children who are affected by a rare disease. We hope this series will get this message of promise out to many who are searching for answers, that it will give understanding on some complex topics, and lead to healthier happier lives.
"Rare Disease Horizons: The Hope of New Research and Technology" is underwritten by the Rare Genomics Institute.