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My Daughter's DNA

Google Tech TalksNovember, 29 2007ABSTRACTI am the father of a 3 year old girl with a hereditary disease affecting her muscles, a condition that may also seriously affect her heart. Her syndrome, a collection of physical findings that have a common cause, has never been described by doctors though it is very closely related to other well known syndromes including the Marfan syndrome, a diagnosis once assigned to Abraham Lincoln because of his tall, thin features. My daughter's syndrome also affects her skeleton including the bones in her face which ironically make her wide-eyed and very beguiling. A full description is at Daughter's DNA details chronologically my effort to unravel the genetic basis of my daughter's muscle weakness. The story begins the moment of her birth when the joy of her birth was eclipsed with the specter of serious medical problems. Over time she is evaluated by the world's experts who are unable to provide a definitive diagnosis but they put me on the right path.The story concludes with the partial sequencing of her genome and the tentative genetic identification of her problem. The story about the natural history of discovery of a single medical condition is, in miniature, a perfect illustration of the emergent state of genetics now that the DNA sequence of the Human Genome has been determined.There is a gaping chasm between those who care for patients and study them - clinical geneticists -- and those that study the genome and necessarily nameless person's DNA. My daughter fell into that wide chasm. But that gap is narrowing fast with what I believe will be a galactic collision of those two cultures. I call upon the talent of those interested at Google to help all parties make sense of this information through software development.Speaker: Dr. Hugh Rienhoff, MDHugh Rienhoff is an entrepreneur and Founder of, a organization dedicated to rare genetic conditions.Dr. Rienhoff has more than 14 years experience as a venture investor and entrepreneur in the life science sector. During much of the 90's he was a partner at New Enterprise Associates, a venture investment firm based in Menlo Park, California and Baltimore, Maryland, leading their biotechnology investing. 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) and served as its Chairman & CEO until late 2001. Before founding DNA Sciences, he was a Director of Abingworth Management Ltd., where he ran the U.S. operation of the London-based venture firm. Dr. Rienhoff has served on numerous boards including Microcide (MCDE), Hexagen and Vactex and currently serves as a board member for Peptimmune, Iconix Pharmaceuticals, and Hydra Biosciences.Dr. Rienhoff was recently appointed as 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.
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