Some weeks ago, I presented Hugh Rienhoff, a father who wanted to know what was wrong with his daughter. He had his daughter’s DNA sequenced, then compared it to the human reference sequences in GenBank. And he logged everything at mydaughtersDNA.org. The purpose of the site:
This site is dedicated to expanding our understanding of genetics conditions and variations in the human genome. The primary purpose of the site is to provide a forum for those searching for explanations and the help of the interested community of geneticists, patients, physicians, scientists and family members. Cases that defy explanation, calls for the identification of similar cases, technical problems related to generating valid DNA sequence or genotype information and interpretations of clinical or DNA findings can be posted and interest generated. Of all the questions patients and their doctors ask, three predominate: what is the diagnosis; is there a treatment, who can help. I hope this site can help with those and the other questions.
Now, this incredible man gave a presentation as a part of the Google Tech Talks series.