When Hugh Rienhoff’s daughter was born 4 years ago he noticed in the operating room she had long feet and contractions of her fingers. Over the course of the next year she demonstrated a profound diminution in her muscle mass and she was weak—she missed every gross motor milestone a normal little girl should hit such as holding the head up, crawling, and walking. It was clear she had a syndrome affecting both her skeleton but more than anything, her muscle development.
Despite diligent efforts by her local physicians to arrive at a diagnosis they were unsuccessful. Rienhoff decided to take her to Johns Hopkins where he had trained as a physician on the off chance that an old-fashioned, very thorough physical examination would provide a clue. Indeed, they got a very strong clue and thought they had a diagnosis but it was a terrible one that awaited confirmation by DNA testing and echocardiography. Fortunately, that diagnosis was essentially ruled out though they felt they were very close—it was left to Rienhoff, however, to take the next steps.
Over the next year Rienhoff digested this new field of biochemistry and formulated a hypothesis but could find no one to test it. It was then that he had to look at his daughter’s DNA himself.
This talk is focused on the resources in the public domain or provided by contract service providers to identify and understand genetic information whether that begins with a hypothesis (candidate genes) or with genotype or sequence data generated en masse in search of a hypothesis.
Hugh Rienhoff is an entrepreneur and founder of <a href=“http://MyDaughtersDNA.org”MyDaughtersDNA.org, an organization dedicated to understanding genetic conditions.
Dr. Rienhoff is a physician and scientist with 15 years experience as a venture investor and entrepreneur in the life sciences. During much of the 90’s he was a partner directing biotechnology investments at the venture firm New Enterprise Associates. He was a founding director of such companies as Healtheon/WebMD (HLTH) and Aurora Biosciences (ABSC). In 1998, he founded DNA Sciences (originally Kiva Genetics), a diagnostic company focused on genetic discoveries and served as its Chairman and CEO for 4 years. Dr. Rienhoff has served as a director on the boards of many public and private companies and currently serves on the boards GeneEd, Odyssey Thera and Lipid Biosciences.
Dr. Rienhoff was a member of the faculty in the Department of Molecular Biology and Genetics at the Johns Hopkins University School of Medicine. He trained in mathematics, medicine, and genetics at Harvard University, Johns Hopkins University, and the Fred Hutchinson Cancer Research Center in Seattle, Washington. He received a Doctor of Medicine degree from Johns Hopkins University School of Medicine and a Bachelor of Arts degree, with honors, in Biology and English Literature from Williams College.