In today’s issue of Nature, there is an article about Hugh Reinhoff and his quest to find a diagnosis for his daughter who is unable to form muscle mass and tone. As noted in the article:
“Rienhoff’s daughter is one of the thousands of children born every year who have a congenital defect that resists satisfactory diagnosis. Such cases could be a known disorder that presents in an unusual way, or they could arise from a mutation rare enough not to have made it into textbooks or databases. Detailed genetic analyses are rarely undertaken on such cases unless a group of families with compelling commonalities can be found. Instead, these children are cared for as best can be.”
Reinhoff refuses to accept this fate for his daughter and has dedicated his efforts to finding a diagnosis. As he details in his blog, with a diagnosis, there can be expectations and the chance for treatment. As he writes, “Without that diagnosis, we are all in the dark”.
In his efforts, he has utilized his training as a clinical geneticist, as well as consultations with top medical experts. Bioinformatics analysis of the human genome, sequencing of candidate genes in his daughter’s genome and finally the creation of a ”phenotypic spreadsheet” with Dr. George Church . The motivation behind the spreadsheet is that such data representations might someday allow computational algorithms to be developed to compare his daughter’s symptoms along with those of others with unidentified genetic disorders looking for clinical commonalities.
