Google Tech Talks
November, 29 2007
ABSTRACT
I 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 www.MyDaughtersDNA.org.
My 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, MD
Hugh Rienhoff is an entrepreneur and Founder of MyDaughtersDNA.org, 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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lol
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violafinishda 1 year ago
wiki article now has no that image
iwantcoolname 2 years ago
fascinating.
Serenyd 2 years ago
Very interesting and informative.
ladyesther35 3 years ago 2
i'd build a pedigree haha
teddyterrorist 3 years ago
yea,wat u said!
Tobi0012 3 years ago
and 22 seconds...
teddyterrorist 3 years ago
then what is the problem?
ikanbiru05 3 years ago
mother of three two with marfans one seimingly ok ... my mother is also affected my grandmother also and a couple of my uncles .. my brother is not affected buy marfans .... mi am 6'2 my 12 year old daughter is also almost 6 feet now ... my middle child is also tall but her feet are a little turned because her ankels are not strong and lose .....we life a happy normal life ... thank you for making this vid very interesting ..... already new alot but still can learn more .. thank you
janinedoughty 3 years ago