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...
www.frontierspartnerships.org/journals/jou...
Frontiers Publishing Partnerships | Pharmacological increases in circulating ketones fail to alleviate the hypertrophic cardiomyopathy present in the Tafazzin knockdown mouse model of Barth syndrome
ObjectiveMutations in the tafazzin gene lead to impaired remodeling of cardiolipin, thereby impairing mitochondrial function and causing Barth syndrome (BTHS...
www.frontierspartnerships.org
December 22, 2025 at 7:12 PM
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...
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... 🔓
Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome - Diabetologia
Aims/hypothesis Barth syndrome is a mitochondrial disorder caused by Tafazzin (TAZ) mutations, which impair cardiolipin remodelling and contribute to systemic metabolic alterations. While islet dysfun...
link.springer.com
November 4, 2025 at 8:07 AM
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... 🔓
Adaptive mechanisms in pancreatic islets counteract mitochondrial dysfunction in Barth syndrome - Diabetologia
Aims/hypothesis Barth syndrome is a mitochondrial disorder caused by Tafazzin (TAZ) mutations, which impair cardiolipin remodelling and contribute to systemic metabolic alterations. While islet dysfun...
link.springer.com
November 3, 2025 at 1:38 PM
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
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
October 30, 2025 at 5:03 PM
🧠💓 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
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
#RareDisease #BarthSyndrome #MedSky
October 21, 2025 at 2:30 PM
#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
#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.
October 20, 2025 at 3:15 PM
#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
September 30, 2025 at 11:35 PM
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
buff.ly/81DU9RM
September 22, 2025 at 11:00 AM
#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
buff.ly/81DU9RM
An update: the FDA granted approval yesterday! Truly, truly grateful 💙🌀🥺. #happytears #barthsyndrome #elamipretide #mitochondrialdisease #raredisease
www.barthsyndrome.org/newsevents/n...
www.barthsyndrome.org/newsevents/n...
News and Press Releases : News & Events : Barth Syndrome Foundation
www.barthsyndrome.org
September 20, 2025 at 5:24 PM
An update: the FDA granted approval yesterday! Truly, truly grateful 💙🌀🥺. #happytears #barthsyndrome #elamipretide #mitochondrialdisease #raredisease
www.barthsyndrome.org/newsevents/n...
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
#BarthProgress #elamipretide #mitochondrialdisease #raredisease #barthsyndrome
News and Press Releases : News & Events : Barth Syndrome Foundation
www.barthsyndrome.org
September 20, 2025 at 5:21 PM
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
#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
#elamipretide #ApproveElamipretide #FDAActNow #BarthProgress #BarthSyndrome #RareDisease #MitochondrialDisease
Time is running out for kids with a rare disease, parents say, unless the FDA acts
After a more than decadelong process to bring the experimental drug elamipretide to market, the treatment’s approval has repeatedly hit roadblocks.
bit.ly
August 19, 2025 at 3:29 PM
“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
#elamipretide #ApproveElamipretide #FDAActNow #BarthProgress #BarthSyndrome #RareDisease #MitochondrialDisease
#ApproveElamipretide
#FDAActNow #BarthProgress #Barthsyndrome #RareDisease #MitochondrialDisease #Mito #shotforshots @fda.gov
#FDAActNow #BarthProgress #Barthsyndrome #RareDisease #MitochondrialDisease #Mito #shotforshots @fda.gov
August 14, 2025 at 10:24 PM
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
🔗 doi.org/10.1002/jmd2...
#IMD #BarthSyndrome #MitochondrialMedicine
July 18, 2025 at 9:43 AM
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
🔗 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
Read more: buff.ly/naIStDw
#Mitochondria #BarthSyndrome
June 26, 2025 at 3:45 AM
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
Read more: buff.ly/naIStDw
#Mitochondria #BarthSyndrome
FYI: LucidQuest Views >>> Rare Diseases Weekly News – June 5th 2025 #News #BarthSyndrome #genetherapy #genomics Comment below!
Rare Diseases Weekly News – June 5th 2025
🔬 Rare Diseases Update: Orphan Drug Designations, Gene Editing Breakthroughs, FDA Shifts & More This week’s roundup features landmark orphan […]
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June 13, 2025 at 8:52 AM
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Rare Diseases Weekly News – June 5th 2025
🔬 Rare Diseases Update: Orphan Drug Designations, Gene Editing Breakthroughs, FDA Shifts & More This week’s roundup features landmark orphan […]
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Rare Diseases Weekly News – June 5th 2025
🔬 Rare Diseases Update: Orphan Drug Designations, Gene Editing Breakthroughs, FDA Shifts & More This week’s roundup features landmark orphan […]
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Rare Diseases Weekly News – May 8th 2025
🔬 Discover the latest breakthroughs in rare disease research from this week’s global biotech and regulatory landscape! In this edition, […]
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Rare Diseases Weekly News – May 8th 2025
🔬 Discover the latest breakthroughs in rare disease research from this week’s global biotech and regulatory landscape! In this edition, […]
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.. 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 …
Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome - Nature Metabolism
In this study, Kagan et al. highlight the relevance of adequate cardiolipin homeostasis by offering mechanistic insight into the pathogenesis of Barth syndrome. The study shows how altered accumulatio...
doi.org
March 20, 2025 at 1:45 PM
.. 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 …