Hugh  Rienhoff的女兒出生時患有一種罕見的遺傳病,，這種病影響其肌肉發(fā)育。該疾病與“馬凡氏癥”相似,，但心血管癥狀是不同的,。它類似于“畢耳氏癥”，而且可能是“馬凡氏癥”或“畢耳氏癥”的一種神秘病例,。當(dāng)傳統(tǒng)方法未能做出診斷時,，Rienhoff決定進行一項個人基因組研究，對其女兒的DNA進行徹底分析,，甚至自己來確定其女兒基因組某些部分的序列,。這是一個突破性的決定。最后,，他獲得了關(guān)于其女兒臨床史的一個“表現(xiàn)型列表”（phenotype  spreadsheet）,，為了解這種罕見的遺傳疾病提供了寶貴的信息，也為可能有助于控制這種疾病的治療方法提供了線索,。故事到此還沒有結(jié)束,，因為還沒有做出明確的診斷，但這項工作還在繼續(xù),。Rienhoff也并沒有到此為止：他現(xiàn)在已建立了一個網(wǎng)站,，名為“MyDaughtersDNA.org”；這是一項善舉,，意在與他人分享自己所獲得的知識,，并對面臨類似困境的其他家庭提供幫助。本期Nature的封面照片就是這父女兩人,，是在幾星期前由Cody  Pickens拍攝的,。

原始出處:

Published online 17 October 2007 | Nature 449, 773-776 (2007) | doi:10.1038/449773a

Personal genomics: His daughter's DNA

Despite a training in clinical genetics, Hugh Rienhoff didn't know what was wrong with his daughter. So, as he tells Brendan Maher, he set about finding out.

Brendan Maher

C. PICKENS
Nearly four years ago, Hugh Rienhoff watched as his baby girl was pulled from a small incision in his wife's belly. It was their third child — the two boys had also been delivered by caesarean — and Rienhoff was there for all three births. But this child seemed different. He remembers her looking a little dark and sort of floppy, possibly attributable to the stress of delivery. Then he caught a glimpse of her feet, which were just a little longer than normal. For an instant, his training as a clinical geneticist kicked in. Could she have Marfan's syndrome?
In the joy of the moment the question vanished as quickly as it arose. “I didn't really think about anything from that point on medically, at least for that day,” says Rienhoff. “I did all the usual things you do when you have a baby, which is cry and call my family.” When the paediatrician handed his new daughter to Rienhoff, she offered some technical terms — nevus flammeus for a port-wine-stain birthmark down the middle of her face and arthrogryposis for the reluctance of her tiny fingers to extend all the way. Rienhoff had to write them down to remember them.......

全文鏈接：http://www.nature.com/news/2007/071017/full/449773a.html