Well I have often thought about getting full genome sequencing as the prices have come down however translating the findings is a problem and then what to do about it. I had a friend that used to work with the Human Genome Project and she suggested it. I’m keeping my on eye on CRISPR technology as I think that is where the fixes will come in. I’m particularly watchful because of my daughter’s POTS is disabling her and she has no life.
My daughter, son and I saw a geneticist re: ehlers danlos. He did some targeting genome sequencing which showed positive up in the Marfan’s arena however nothing definitive and really no answers to act on. I personally am very fascinated in genetics and epogentics. A good geneticist has access to databases that can start to tie things together.
This study points towards “COL6A1 gene polymorphisms have been associated, although no definitive genes have been identified”
My suggestion would be to contact the authors of this study in Belfast and see what they have put together since this was done in 2010-2011. They would likely know what if any other studies are out there on this?