My EDS Challenge Day 29- Research hopes in Life with Ehlers Danlos
- May 29, 2021, 5:33 p.m.
I am taking part in #MyEDSChallenge and #MyHSDChallenge with the Ehlers Danlos Society. Since May is EDS awareness month, every day I will be sharing something about myself and my EDS journey to drive further awareness and community.
Day 29- Research hopes for our future
There are about 50 ish genes that code for collagen and elastin production and synthesis. There are 16 types of collagen. 12 out of 13 types of EDS have known genetic causes to the disease however that last type (hEDS and HSD) need more research. It may be possible that everyone with hEDS ans HSD have different genes that are “broken” in the body, thus giving way to possibly even more types of EDS. Someday my hopes are that they know what combination of genes are involved for each person through a customized test. And then, once the genetic component is found, we can then grow stem cells with the corrected genes and inject them into problemed areas in people. Its not outside of the rhelm of possibility.
Remember when the first computer was the size of a whole room? This is metaphorically where we are at with genome sequencing. We know roughly a little about every single gene in the human body. But we dont know the “how” for the mechanisms of their failure for a lot of rare diseases. And in order for better treatments to become avaliable, we need more data. I suspect in the next 20 years what may cost millions now to do will cost a couple thousand and we may have a more standardized way to test people for rare disorders.
Mamie ⋅ May 31, 2021