A thrilling new hypothesis describing how exactly SAICAr destroys brain cells in #ADSLDeficiency Thanks to Dr Manoj Pandey for this excellent work.
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#ADSLDeficiency
Latest posts tagged with #ADSLDeficiency on Bluesky
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Posts tagged #ADSLDeficiency
Dr. Sylvia Sanguer shares a new paper on their #clinicaltrial of Allopurinol to treat #ADSLDeficiency
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A conversation with Natalie K Watson, mom to late Rare Birds William and Hamish and author of Bigger Than My Body, a memoir about loving and losing both of her boys to #ADSLDeficiency
#inbornerrorsofmetabolism
#grief
#childloss
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16 minute presentation reviewing a year of Rare Birds Foundation.
#inbornerrorsofmetabolism
#purines
#ADSLDeficiency
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ADSL Deficiency is a metabolic disorder AND a mitochondrial disorder. Damn dude…
#adsldeficiency
#mitochondria
#raredisease
#purine
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A sleepy white woman with an open mouthed smile sits with her laptop open to the Conference Zoom. The laptop screen shows the “Rare Drug Development Roadmap”. Her kitchen table is a mess in a way that says “Children live here.”
I’m at a conference in my pajamas today! Attending Global Genes and Boston Children’s Hospital Rare Drug Development Symposium to learn the latest on how I can D.A.R.E. to get my kids on drugs.
#ADSLDeficiency
#raredisease
#drugdevelopment
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Hot and fresh from the oven! New paper on #ADSLDeficiency
#complementpathway
#genetic
#metabolic
#enzyme
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Let’s explain ADSL Deficiency to a Kid. An educational resource from Rare Birds Foundation for ADSLD.
Imagine your body is like a busy restaurant. In the kitchen, there are workers called “enzymes” that chop food into small bits to make new, tasty dishes. Like chefs! One of these enzymes is named Adenylosuccinate Lyase, or Al for short.
There’s just one problem. When a person had ADSL Deficiency, it’s like Al the enzyme does all of that chopping with a broken arm! This makes Al work very slowly. Not only does unchopped food pile up, but…
The customers are sooo hungry! Imagine the customers are a person’s brain and muscles, and when they don’t have enough food to eat from the restaurant, they lose energy and can’t do their work very well.
I created a resource for siblings and friends of people with ADSL Deficiency to understand the basics of the disorder. Turns out, it’s really helpful for adults too! #ADSLDeficiency
#raredisease
#metabolism
#science
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Precisely. I WANT to understand good science because my kids’ lives truly depend on it. But I have a BA in Theater Arts.
#ADSLDeficiency
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New paper on the evolution of the ADSL gene between Neanderthals and humans and the effect on mouse behavior 🧪
#adsldeficiency
#neanderthal
#science
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I’m biased, but I would like to see emphasis put on helping people who are already sick from severe genetic disorders. We can do designers babies later (preferably after I’m dead.)
#ADSLDeficiency
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A white family of four poses for a photo with a beach and cloudy sky in the background. The children in the foreground are both in wheelchairs, mom and dad are smiling. They all wear sunglasses.
Parents of children with rare diseases are charged with raising the child and also CURING THE DISEASE. What my brothers and sisters in arms are doing is nothing short of heroic. Thanks to my kids Jonah and Flora for showing me what ‘brave’ really is.
#ADSLDeficiency
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Urea Cycle Disorders are closely related to #ADSLDeficiency so we are feeling a lot of hope from this advancement. So happy for this family.
apnews.com/article/cris...
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Reposting to read later. #ADSLDeficiency
Www.rarebirdsfoundation.org
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