Biologist attempts to find cure for daughter's mystery disease by mapping her DNA

Hugh Reinoff, a microbiologist, is attempting to pinpoint the cause of his daughter's mystery ailment by mapping and analyzing her DNA. His daughter, Beatrice, has atrophied muscles in both legs, and even though the family has been to some of the best doctors in the country; the cause of the atrophy is still unknwon, according to this article in Wired.

Hugh tired of specialist after specialist not knowing exactly what was wrong with Beatrice after she was born with clenched fingers and abnormally long feet. First, the doctors thought she had Marfan syndrome, then Beals syndrome. One doctor thought the diagnosis was Loeys-Dietz syndrome, which can warp the aorta and twist arteries.

In his quest to find answers, Hugh pored over the latest issues of Science and other medical journals. He became convinced that the issue had to be related to a specific portion of Beatrice's DNA, since all three diseases are caused by similar areas of DNA. After failing to get another doctor to agree to analyze Beatrice's DNA, Hugh began the analysis himself, renovating an old study and using second-hand equipment.

He didn't find anything strikingly different about her DNA, so he began analyzing her transcriptose, a smaller part of DNA which is used to pass instructions to ribosomes, the cellular parts that make proteins. He has found a few promising sections of DNA, but nothing definitive.

Hugh has also started www.mydaughtersDNA.org, which encourages parents to post information and clinical histories about their undiagnosed children in the hopes to raise awareness and prompt awareness and research about these undiagnosed diseases. He has yet to find the cause of Beatrice's disease, but remains hopeful.