#adsldeficiency
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stevielicks.bsky.social
Reposting to read later. #ADSLDeficiency
Www.rarebirdsfoundation.org
jcornlab.bsky.social Jacob Corn @jcornlab.bsky.social · Jan 30
Cells are filled with toxic stuff that damages healthy proteins. Is that garbage just left to rot on the curb? No way! Ubiquitin ligases have evolved to recognize chemical damage and clean it up! www.nature.com/articles/s41...
C-terminal amides mark proteins for degradation via SCF–FBXO31 - Nature
SCF–FBXO31 scans proteins for C-terminal amidation and marks them for subsequent proteasomal degradation.
www.nature.com
January 31, 2025 at 8:26 PM
stevielicks.bsky.social
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
July 16, 2025 at 11:13 PM
stevielicks.bsky.social
16 minute presentation reviewing a year of Rare Birds Foundation.
#inbornerrorsofmetabolism
#purines
#ADSLDeficiency
Rediscovering ADSLD, Nicole Lytle
YouTube video by Rare Birds Foundation for ADSL Deficiency
youtu.be
October 27, 2025 at 11:59 PM
stevielicks.bsky.social
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
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.
July 12, 2025 at 6:41 PM
stevielicks.bsky.social
Dr. Sylvia Sanguer shares a new paper on their #clinicaltrial of Allopurinol to treat #ADSLDeficiency
Rediscovering ADSLD, Recording 3, Dr. Sylvia Sanguer
Rediscovering ADSLD, Dr. Sylvia SanguerDr. Sanguer presents findings from a study on the treatment of ADSL Deficiency with Allopurinol, highlighting improvements in younger and less severely impacted ...
www.rarebirdsfoundation.org
October 29, 2025 at 10:56 PM
stevielicks.bsky.social
Last week my family traveled to the #NIH to participate in medical research and receive care for #ADSLDeficiency. I am in awe. Grateful for science and NIH.
A team of doctors, scientists, nurses, helpers and parents surround Jonah and Flora, 2 kids in wheelchairs, in the atrium of the Clinical Center at NIH
June 2, 2026 at 3:36 PM
stevielicks.bsky.social
A thrilling new hypothesis describing how exactly SAICAr destroys brain cells in #ADSLDeficiency Thanks to Dr Manoj Pandey for this excellent work.
Rediscovering ADSLD, Recording 6, Dr. Manoj Pandey
Rediscovering ADSLD, Dr Manoj K PandeyDr. Pandey discusses how genetic enzyme deficiencies can act as critical drivers of complement activation and inflammation in distinct metabolic disorders. In G...
www.rarebirdsfoundation.org
November 4, 2025 at 6:14 PM
stevielicks.bsky.social
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
Rediscovering ADSLD, Recording 2, A Conversation with Natalie K. Watson
Rediscovering ADSLD, Natalie K WatsonNatalie Watson shares her experience as a Rare Bird mom from Australia in a discussion about loving, losing and honoring the legacy of her late sons, William and ...
www.rarebirdsfoundation.org
October 28, 2025 at 11:13 PM
stevielicks.bsky.social
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
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.”
September 3, 2025 at 5:27 PM
stevielicks.bsky.social
New paper on the evolution of the ADSL gene between Neanderthals and humans and the effect on mouse behavior 🧪
#adsldeficiency
#neanderthal
#science
Tracing brain chemistry across humanity’s family tree
Small changes to an enzyme suggest how modern humans differ from Neanderthals and Denisovans in biochemistry and behavior.
www.oist.jp
August 7, 2025 at 9:15 PM
stevielicks.bsky.social
Hot and fresh from the oven! New paper on #ADSLDeficiency

#complementpathway
#genetic
#metabolic
#enzyme
Emerging role of complement system in the induction of neuroinflammation in adenylosuccinate lyase deficiency disorder
Adenylosuccinate lyase deficiency disorder (ADSLDD) is an ultra-rare autosomal recessive metabolic condition that leads to severe neurological impairm…
www.sciencedirect.com
August 26, 2025 at 3:46 PM
stevielicks.bsky.social
Yesterday, Rare Birds Foundation awarded our first Caregiver Retreat Grants to 3 moms raising kids with ADSL Deficiency. Yesssss…
#ADSLdeficiency
#caregiver
#purines
June 18, 2026 at 4:06 AM
stevielicks.bsky.social
We’re halfway through our week at the #nih. It has been an incredible experience and I’m so thankful to American taxpayers for funding studies into complex pediatric disorders like #ADSLDeficiency
May 27, 2026 at 11:04 PM
stevielicks.bsky.social
ADSL Deficiency is a metabolic disorder AND a mitochondrial disorder. Damn dude…

#adsldeficiency
#mitochondria
#raredisease
#purine
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation
Bordi et al. identify mitochondrial dysfunction and ERK2/AKT impairment as hallmarks of ADSL deficiency. Mitochondrial defects correlate with disease severity and are partially rescued by ERK2-CA over...
www.cell.com
September 9, 2025 at 3:52 AM
stevielicks.bsky.social
Flora and I spoke at #grandrounds for the Undiagnosed Disease Program during our visit to the NIH alongside Dr Bill Gahl. Educating clinicians about #ADSLDeficiency and the work of Rare Birds Foundation was deeply meaningful, especially with one of my own Rare Birds at my side.
Onstage at the Lipsett Auditorium at NIH, a mom sits beside her daughter who is in a wheelchair. They are being asked a question by Dr Bill Gahl with a large screen behind them that reads “Adenylosuccinate Lyase Deficiency”. Special thanks to Nurse Sandy Chow and To Dr. Oleg Shchelochkov who gets photo credit 💜
June 8, 2026 at 10:52 PM
stevielicks.bsky.social
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
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.
August 18, 2025 at 7:22 PM
stevielicks.bsky.social
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...
Gene editing helped a desperately ill baby thrive. Scientists say it could someday treat millions
A baby born with a rare and dangerous genetic disease is thriving after getting an experimental gene editing treatment made just for him.
apnews.com
May 16, 2025 at 11:45 PM
stevielicks.bsky.social
Precisely. I WANT to understand good science because my kids’ lives truly depend on it. But I have a BA in Theater Arts.
#ADSLDeficiency
August 7, 2025 at 11:03 PM