Last, very happy to share the first original research paper from PhD student, Tanin Shafaati, demonstrating that increases in ketones do not benefit cardiac parameters in a mouse model of #BarthSyndrome
www.frontierspartnerships.org/journals/jou...
Adaptive mechanisms in pancreatic islets involve remodelling of defective cardiolipin, counteracting mitochondrial dysfunction in #BarthSyndrome #Islets #BetaCells #DiabetesResearch
Defective cardiolipin remodelling triggers compensatory mechanisms in #PancreaticIslets, offering insights into potential therapeutic targets for #BarthSyndrome and islet dysfunction in diabetes. #CellularAdaptation #MitochondrialResearch link.springer.com/article/10.1... 🔓
🧠💓 Functional lipidomics in action!
HL-1 cardiomyocytes recorded on multi-electrode arrays (MEA) show coordinated waves of spontaneous electrical activity — a window into how lipid remodeling affects cardiac excitability.
#Lipidomics #BarthSyndrome #Cardiolipin #Plasmalogen #Mitochondria #MEA
#NORDSummit: Shelley Bowen, director of family services and advocacy for the Barth Syndrome Foundation, which successfully lobbied for FDA approval of #Elamipretide for an X-linked disease that affects only 500 boys worldwide. @nordrare.bsky.social
#RareDisease #BarthSyndrome #MedSky
#NORDSummit: Reenie McCarthy, CEO of Stealth BioTherapeutics, speaking Oct. 20, 2025, at the @nordrare.bsky.social 2025 Summit about the FDA’s Sept. 2025 approval of the Stealth therapy elamipretide (#Forzinity™) for #BarthSyndrome, an ultrarare, progressive genetic disease.
I lost both of my brothers to #BarthSyndrome and I’ve known this family for fifteen years. Thank you for telling their story 💙. #raredisease #mitochondrialdisease
#StealthBioTherapeutics has claimed FDA approval for #Forzinity, the first treatment for ultra-rare disease #Barthsyndrome, just a few months after it was turned down by the regulator.
buff.ly/81DU9RM
An update: the FDA granted approval yesterday! Truly, truly grateful 💙🌀🥺. #happytears #barthsyndrome #elamipretide #mitochondrialdisease #raredisease
www.barthsyndrome.org/newsevents/n...
Historic. I can’t help but think of my brothers and wish they were here to benefit from this. Mostly, I’m just so proud of my mom and everyone who worked so hard to make this happen. www.barthsyndrome.org/newsevents/n...
#BarthProgress #elamipretide #mitochondrialdisease #raredisease #barthsyndrome
“Our kids are dying. We have seen that this drug works,” said Kate McCurdy, a co-founder of the Barth Syndrome Foundation. “This drug totally saves the lives of babies.”
#elamipretide #ApproveElamipretide #FDAActNow #BarthProgress #BarthSyndrome #RareDisease #MitochondrialDisease
#ApproveElamipretide
#FDAActNow #BarthProgress #Barthsyndrome #RareDisease #MitochondrialDisease #Mito #shotforshots @fda.gov
#BarthProgress
#ApproveElamipretide
#BarthSyndrome
#RareDisease
#FDAActNow
#HopeForBarth
@annabower.bsky.social @muellershewrote.com @fda.gov
Cardiac transplantation may save lives in Barth syndrome—but doesn’t fix exercise tolerance, metabolism or muscle mass. New data underscores need for targeted metabolic therapies.
🔗 doi.org/10.1002/jmd2...
#IMD #BarthSyndrome #MitochondrialMedicine
A new study in The #FASEBJournal shows that MA-5, a drug targeting mitochondria, helps restore energy ⚡ and ease heart and muscle problems 🫀 in models of Barth syndrome, a rare disorder. MA-5 could be a game-changer for those living with BTHS.
Read more: buff.ly/naIStDw
#Mitochondria #BarthSyndrome
FYI: LucidQuest Views >>> Rare Diseases Weekly News – June 5th 2025 #News #BarthSyndrome #genetherapy #genomics Comment below!
ICYMI: LucidQuest Views >>> Rare Diseases Weekly News – June 5th 2025 #News #BarthSyndrome #genetherapy #genomics Comment below!
LucidQuest Views >>> Rare Diseases Weekly News – June 5th 2025 #News #BarthSyndrome #genetherapy #genomics Comment below!
FYI: LucidQuest Views >>> Rare Diseases Weekly News – May 8th 2025 #News #AIhealthcare #BarthSyndrome #FSGS #gMG Comment below!
ICYMI: LucidQuest Views >>> Rare Diseases Weekly News – May 8th 2025 #News #AIhealthcare #BarthSyndrome #FSGS #gMG Comment below!
LucidQuest Views >>> Rare Diseases Weekly News – May 8th 2025 #News #AIhealthcare #BarthSyndrome #FSGS #gMG Comment below!
.. More specifically, we summarize some years of work on mitochondrial lipid-protein interactions, with a focus on some recent work (doi.org/10.1038/s422... ) where we probe how drug-like compounds can bind a pathogenic protein-lipid complex relevant to #BarthSyndrome …
We hoped for a full-circle moment—Devin’s new heart on #NationalDonorDay, discharge on #RareDiseaseDay —but the flu had other plans. He's improving and his heart looks great. Hoping to go home next week! #BarthSyndrome caused Devin’s first transplant—today, we honor all rare warriors. #DevinsLeague
Today is #RareDiseaseDay. I have #TurnerSyndrome, a #raredisease, and I lost 2 brothers to #barthsyndrome, an ultra-rare disease affecting 300 people worldwide. Rare diseases affect an estimated 1 in 10 in the United States - over 25 million people, and nearly half of those patients are children.
