EDSed, Episode 1: The Norris Lab
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- Опубликовано: 2 июл 2023
- In our first episode, we interviewed Dr. Gensemer and Dr. Norris, the driving forces behind the Norris Lab. Dr. Norris is a professor in the department of Regenerative Medicine and Cell Biology at MUSC. Dr. Gensemer achieved her PhD in the Norris Lab in 2022. Her current research is focused on the genetic and molecular mechanisms of hypermobile Ehlers-Danlos Syndrome (hEDS). In this interview, they talk about what the Norris Lab currently does and plans to do in the future, how they became this EDS powerhouse, why accessibility matters and what challenges female scientists with EDS face.
[Accessibility information: All our videos are available with closed captions; some have descriptive audio, for example, the feature film We Are Visible in its original English version. The Norris Lab interview is only available with English captions. Video description: Two people are sitting in beige office chairs in front of a white wall. Dr. Gensemer is a woman with long, wavy blonde hair. She wears a blue shirt and white pants and has flower tattoos on her arm. Next to her sits Dr. Norris, a man with short brown hair, grey glasses, a blue shirt and a dark blue jacket on top. They answer the following questions: Can you tell us a little bit about your EDS journey? Did you always want to become a scientist? How did the Norris Lab come together? How did you recruit patients for the hEDS project? How did you handle the huge interest in your work? How did you end up becoming this EDS powerhouse? Tell me a bit about your advocacy supporting disabled scientists. What’s the biggest challenge as a scientist with EDS? What’s next? Any new projects in planning? How hard is it to keep the hEDS gene you found a secret?] 
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Finding even one gene that accounts for some hEDS patients is still super helpful!
Amazing work well done! this is an amazing initiative that should be modeled worldwide for every disease
I’m seeing that new doctors are being taught that EDS is “psychosomatic” which is terribly disheartening. I hope we can get the right training out there for doctors!
My son sent me a link one day to EDS. Seems my mother (deceased in 1970) had it, I have it, and at least two of my three sons fit the criteria. My kindergartner grandchild seems also to fit the profile. What link do you see with Celiac and this disease
Have you done research on the potential benefits of L-glutamine supplementation combined with weight bearing exercises to strengthen connective tissue.
L-glutamine is also good for G.I. tract cells combined with intermittent fasting to lessen inflammation of the GI tract.
Please stop with the, "Have you tried..." comments. Seriously, I've gotten HUNDREDS of these comments when I tell people about EDS. YES, by the way, I have tried, "[fill in the blank]" and it didn't work. There is no cure. There are no drugs. There are no surgeries. There are no treatments. You brace, treat the symptoms, have a few dozen surgeries (I've had two), and wait for the pain subside enough to move on to your next injury. ABSOLUTELY NOTHING improves the quality of your collagen. It's not our fault. We didn't bring this on ourselves. We aren't the way we are because we don't take enough f'ing L-glutamine, glucosamine, chondroitin, fish oil, vitamin D, vitamin C, Vegetarian, Vegan, fruit only, etc. All these suggestions might sound helpful, but they all assume that WE are not doing enough and it's somehow our fault. Yeah, some creatine was not what I needed to stop my hip from dislocating when I sat in the car a couple of weeks ago.
Elevated tryptase and other mast cell mediators can weaken connective tissue.
The connective tissue is not being weakened by something we're not doing. It is genetic. We are born that way. I wore corrective shoes from the day I could walk. I had corrective surgery on both feet when I was 10. I don't think amino acid imbalance caused this,.
@@RyeOnHamFor some people it could be the Mast cells. HATS (Hereditary Alpha Tryptasemia Syndrome) is a genetic condition that causes elevated tryptase which is a Mast cell release chemical that can cause hypermobility. I have problems with connective tissue: hypermobility in shoulder, hips, knees, ankles, wrists and neck instability that contributes to neurological problems causing dizziness and central sleep apnea. My sibling has been diagnosed with hEDS (hypermobile type Ehlers Danlos), and my mom was diagnosed with Systemic Mastocytosis. Mast cell issues are common for people diagnosed with hEDS. It's thought to possibly being varying genes underlying hEDS.
@@RyeOnHamy statement is correct for me.
1. I have mast cell problems
2. I have elevated tryptase levels
3. Tryptase acts like meat tenderizer (it weakens tissues).
Dr Theohardides has spoke at Ehlers Danlos annual meetings about Mast involvement in hEDS.
4. High levels of Tryptase can cause hypermobility in joints.
I'm just opining on my experience and your experience is yours.
Tryptase isn't an Amino Acid.
Thank you so very much for all your efforts and for sharing all this with us in this way. I was diagnosed at 57 years old after decades of issues and LOA from schools and work and many surgeries. I’m so encouraged that our next generations may have a smoother path in life due to your work. 🫶🏻🙏🏻
Yes very uncommon journey of being diagnosed so fast