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


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Guest:

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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