The Ehlers Danlos Syndromes (EDS) are inherited connective tissue diseases. Connective tissue is like the glue that holds your body together. If you mess it up, a lot of things can go wrong.
A brief summary of my postdoc research (🧵) for #NPAW2022
#MUSCCGS #CGSPostDoc (1)
A brief summary of my postdoc research (🧵) for #NPAW2022
#MUSCCGS #CGSPostDoc (1)
For most types of EDS, we understand the cause. But for hypermobile EDS (hEDS) researchers are still unsure of why people have it, and why some people are so severely affected by it. Since we don't understand the causes or mechanisms, there are no direct therapies or cures. (2)
The goal of my work is to understand the genetic causes and biological pathways/mechanisms that contribute to the progression and manifestations people experience to develop better ways to diagnose patients and treat the consequences and comorbidities. (3)
Why does genetics matter so much? Well, you can think of your genetic code as a set of instructions that tells the body (and the connective tissue in this case) how to be assembled to work and function properly. (4)
If there is a change in the DNA (mutation) sometimes it will mess up the instructions & cause our cells to make proteins incorrectly. Then these messed-up proteins can’t interact with other proteins & we get all sorts of downstream issues that impact connective tissue (5)
If we can identify these mutations by using patient genetic information, we can then study how these messed-up instructions lead to connective tissue issues through cell and animal models that allow us to study what goes wrong downstream (6)
and most importantly, we can try to figure out how we can use this to diagnose individuals earlier, and potentially interfere to fix the connective tissues and improve patient quality of life. (7)
credit to @BioRender for graphics!
credit to @BioRender for graphics!
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