rare disease

Rare Disease Horizons: The Hope of New Research and Technology, Part I: Genomics with Dr. Eric Topol

Guests: Eric Topol, MD, Cardiologist, Genetic Researcher, and Technologist

Bio and Contact Info

Listen (4:55) DNA sequencing has come a long way since the Human Genome Project

Listen (5:01) How should patients know if they should get their genome sequenced?

Listen (3:29) What are the challenges to getting your genome sequenced and interpreted?

Listen (4:15) What hope does genomics offer to those with rare disease?

We start the series with a show about genomics, because this is often where a diagnosis begins--looking at the patient’s genome for causal mutations. Dr. Topol is a highly sought after expert who helps families with patients of a rare disease at the renowned Scripps Institute in La Jolla, CA. He’s also the author of a book, The Creative Destruction of Medicine, which describes the impact of new technologies such as DNA sequencing and mobile smartphones to change forever the practice of medicine.


For more info, get the free eBook from Rare Genomics Institute

"Rare Disease Horizons: The Hope of New Research and Technology" is underwritten by the Rare Genomics Institute.




Rare Disease Horizons: The Hope of New Research and Technology: Introduction with Jimmy Lin

Guest: C. Jimmy Lin, M.D., Ph.D, Founder of the Rare Genomics Institute (RGI)

Bio and Contact Info

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 1: Genomics: Eric Topol, Director, Scripps Translational Science Institute

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.


Father/Scientist Finds Gene Responsible for Daughter's Unknown Syndrome: Hugh Rienhoff Talks Personal Genomics

Podcast brought to you by: Ingenuity Variant Analysis - Identify causal variants from human sequencing data in just hours.


Hugh Rienhoff, MD, Founder of MyDaughtersDNA.org Bio and Contact Info

Listen (6:44) Gene linked to daughter's unknown syndrome found

Listen (10:33) DNA sequencing now a first line test

Listen (1:42) What is your ultimate goal in this quest?

Listen (6:40) The father vs the scientist

Listen (4:56) Rewards and frustrations

Listen (4:37) How would you characterize your relationship with DNA?

Today's show is a bit of a scoop. Hugh Reinhoff is a biotech entrepreneur and physician. He is also a parent who has been on a special odyssey to find the genetic cause of a so far undiagnosed syndrome in his daughter Beatrice. Hugh made headlines around the world in 2007 when he set up a site MyDaughtersDNA.org to connect with other parents on similar odysseys. Over the years, we've read about Hugh in various articles and books as a lone parent/scientist up in his attic poring over the millions and millions of nucleotides making up his young daughter's genome.

What we didn't know when we contacted Hugh for the interview, was that he has now found the gene he finds "largely if not solely responsible" for Beatrice's syndrome. And his results have not yet been published. Hugh talks about how far DNA sequencing has come in the last six years and agrees that it is now a "first line test." As a geneticist and physician, Rienhoff was in a special position when it became evident his daughter Beatrice was obviously different. He admits in today's show that sometimes the father has been at odds with his role as scientist and physician. What has he learned as a father as a result of this unique odyssey, what has been the biggest frustration along the way, and what is his ultimate goal? Hugh's story is that of a pioneer in the Wild West of Personal Genomics.

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