Hugh Rienhoff的女儿出生时患有一种罕见的遗传病，这种病影响其肌肉发育。该疾病与“马凡氏症”相似，但心血管症状是不同的。它类似于“毕耳氏症”，而且可能是“马凡氏症”或“毕耳氏症”的一种神秘病例。当传统方法未能做出诊断时，Rienhoff决定进行一项个人基因组研究，对其女儿的DNA进行彻底分析，甚至自己来确定其女儿基因组某些部分的序列。这是一个突破性的决定。最后，他获得了关于其女儿临床史的一个“表现型列表”（phenotype spreadsheet），为了解这种罕见的遗传疾病提供了宝贵的信息，也为可能有助于控制这种疾病的治疗方法提供了线索。故事到此还没有结束，因为还没有做出明确的诊断，但这项工作还在继续。Rienhoff也并没有到此为止：他现在已建立了一个网站，名为“MyDaughtersDNA.org”；这是一项善举，意在与他人分享自己所获得的知识，并对面临类似困境的其他家庭提供帮助。本期Nature的封面照片就是这父女两人，是在几星期前由Cody Pickens拍摄的。
原始出处:
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.......
全文链接：http://www.nature.com/news/2007/071017/full/449773a.html
