Welcome to MyDaughtersDNA.org

MyDaughtersDNA.org

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.

 
A second purpose of the site is to illuminate the entire process of genetic diagnosis beginning with the clinical presentation and ending in a molecular determination.  In this new age of genetics, where the human genome is determined and new methods for determining DNA sequence are coming on line, this site can provide understanding and, for some, the tools for users to make these inquiries.
 

The inspiration for this site comes from the unusual coincidence that I was trained as a clinical geneticist and I have a daughter with an unknown genetic syndrome. The community of clinical geneticists have been diligent and helpful but a definitive diagnosis remains elusive. It is very possible she has a new syndrome but despite my efforts, the molecular (or DNA) variant causing the syndrome is not known with certainty though I have identified a candidate. Were I not a physician trained as a geneticist,  it is likely my daughter’s condition would be lumped together with other patients in a category of heterogeneous but similar clinical conditions. This is the standard and respectable way that physicians deal with novelty.  It is a way station on the path to some greater understanding of human biology.  It takes the trained eye to spot the uniqueness of a case, sometimes a lucky scientific insight, or simply the tincture of time for science to catch up with the human condition.  In all cases, the question at hand -- what does she have --  has to be asked and re-asked and that is best done of everyone. This site allows that open question to hang out in the public begging unapologetically for an answer.

The first posting to this site represents the story my daughter and my preliminary investigations of her genome. I post this information with the hope that I might find others with similar problems, that someone might provide a key insight, and that others -- physicians, scientists, patients and parents -- might find inspiration to do the same for their own conundrums.  The format for presenting the case follows many conventions that seem sound.  Though this format requires some discipline and organization, the convention makes it easier for the professional community to consider and respond.   I welcome comments.

The human genome is still a wilderness of mostly unknown genetic significance. The number of variations and their combinations within the collective human genome is greater than the entire human population on earth and as such it will take a collective effort to make sense of these variations. This site is specifically designed to allow the easy and, if desired, anonymous exchange of information especially for those physicians and scientists who would like to step into and contribute to this new era of genetics as well as those who wish to be early explorers of their own genomes. For some inquiries, this will take considerable commitment. For others, it will simply require interest.

Caveats: the site is not intended to supplant or subvert the normal and proper process of consulting a physician or genetic counselor. The site is not a place to practice medicine and hence a place for providing definitive diagnoses or prescribing therapeutic courses.  It is not a site to promote any commercial efforts relating to the genome or the exploitation of communities around topics of common interest. The site is funded and maintained entirely by users.  It is intentionally a not-for-profit site and intended solely for those willing to share the history of a complicated patient, one's own very personal story, the scientifically brave, the curious, and all generous enough to share their knowledge, their insights, and their valuable time.