Hi All!
I came across this article, dated January 24, 2013. It's about a European initiative, started in 2011, to bring international rare disease researchers together to develop new diagnostic tools -- and to actually connect the research data on a global scale. http://www.checkorphan.org/grid/news/people/eliminating-rare-diseases?q=undiagnosed.
It's very good news for all of us -- a real step in the right direction!
Because there has been some discussion here about DTC (direct-to-consumer) genetic testing, I wanted to point out a portion of commentary from the article that is related to this type of sequencing of an individual's entire genome -- a service that can be easily purchased through companies like 23andMe and Navigenics --
"Professor Hanns Lochmuller of Newcastle University, UK, who is leading the new rare disease hub, said: "Being able to sequence a person's entire genetic code is an important advance, particularly for people living with the many rare genetic disorders, but it has also shown us that sequencing is only the first part of the story. It doesn't replace clinical expertise ? in fact, being able to combine genetic data with clinical data is more important than ever."
"Dr Segolene Ayme, Emeritus Director of Research at INSERM, the French Institute of Health and Medical Research, added: "Sequencing produces a vast amount of information, but in most cases it will find hundreds of genetic changes in each person. We now need to collate the data internationally to discover which change ? or combination of changes ? actually causes the disease."
As we all know here, there is no solid research on POIS yet, so no one knows if there is a genetic aspect to POIS. (FYI, not all genetic changes are inherited -- many are spontaneous mutations).
I just think it's important to understand that having one's genome sequenced does not provide a diagnosis, that there's so much more than only the sequencing of someone's genome. In and of itself, it is not diagnostic. It needs clinical corroboration by a specialist -- and even then -- the answer may still be elusive. Genetic sequencing is still new territory.
Hopefully, this International Rare Diseases Research Consortium will look at information related to POIS! (They may already be doing so -- but may not be aware that their findings are related to what is referred to here as "post orgasmic illness syndrome." (The focus of this huge consortium is not only genetics -- it runs across a broad spectrum of medical specialties.)
One thing is certain -- all researchers involved in this consortium will be included in the ever-growing list of potential POIS researchers -- and they will be hearing directly about your upcoming research grant.
Stef
