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#mitochondrialdiseases

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This #STTT review discusses the molecular mechanisms and therapeutic landscape of #MitochondrialDiseases, highlighting how targeted interventions in mitochondrial function provide a promising avenue for clinical treatment.

#OpenAccess: doi.org/10.1038/s413...

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It’s #BrainAwarenessWeek! Many #MitochondrialDiseases can have negative implications for brain health. That’s because the brain requires a massive amount of energy, which can only be sufficiently produced when mitochondria are functioning well. #UMDF #Biosky

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Today is #RareDiseaseDay. We stand with the 300 million people globally who live with a rare disease, including those with rare #MitochondrialDiseases like #MELAS. Read stories of #RareDisease heroes: www.rarediseaseday.org/heroes/ #Biosky

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A team of researchers led by Dr Albert Quintana has identified the mechanism behind a potentially fatal type of epilepsy, a symptom of #mitochondrialdiseases
Read the article: cutt.ly/2r7yUBrl
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Tonight, landmarks, buildings & monuments around the world will light up in GREEN to shine a light on #MitochondrialDiseases. This display raises visibility, sparks conversations & shows solidarity with the mito community. #LightUpForMito #WorldMitoWeek2025 #Biosky mitopatients.org/light-up-for...

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Mitochondria are known as “the powerhouse of the cell,” generating ~90% of the energy our bodies need and playing a critical role in many different bodily systems and organs. #MitochondrialDiseases have broad and debilitating consequences. #WorldMitoWeek2025 #DecodeTheMitoPuzzle #Biosky

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#WorldMitoWeek2025 starts today! This advocacy week is intended to raise awareness about #MitochondrialDiseases with a goal of improving the lives of people affected by these diseases. Join us in supporting this global community! #MitochondrialDisease #DecodeTheMitoPuzzle #Biosky

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An overview of the therapeutic mechanisms & advancements in engineered #mitochondria, with a summary of their potential clinical implications and supporting evidence from #ClinicalTrials. #MitochondrialDiseases #medsky

#STTT #OpenAccess: doi.org/10.1038/s413...

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We’re on a mission to deliver medicines that address what matters most for people with #MitochondrialDiseases, beginning with MELAS and our Phase 2b PRIZM study. Learn more: www.tisentotx.com/prizm #ClinicalResearch #NowEnrolling #RareDisease

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Exploring the physiological mechanisms of mitochondria, the mechanisms underlying #MitochondrialDiseases, their potential diagnostic & therapeutic applications, as well as future perspectives on mitochondrial diseases. #medsky

#STTT #OpenAccess: www.nature.com/articles/s41...

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#DidYouKnow: International Mito Patients (IMP) is a network of 18 patient organizations, spanning 3 continents, that support people with #MitochondrialDiseases globally. IMP also supports people living in countries without a national mito organization. #Biosky mitopatients.org/members/

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Zebrafish are helping scientists tackle rare #mitochondrialdiseases like MDDS

In 2018/19, Lily funded research using zebrafish to test treatments

Find out what happened in our latest Research Zone post with Research Manager Maria and Dr Ben Munro

www.thelilyfoundation.org.uk/affected-by-...

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Elamipretide would be the first ever approved treatment for people with Barth Syndrome and with similar #mitochondrialdiseases like Hope. It has been life-giving and life-changing for those who have taken the drug. The @fda.gov needs to reconsider its decision. Lives are on the line. #raredisease

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#DidYouKnow: Cognitive health is under-researched in primary #MitochondrialDiseases (PMD). By sponsoring the #mitoARCH study at #MitoMed 2025, we hope to break new ground in understanding the impact of PMD on cognition. Learn more: umdfconference.org/clinical-res...

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Join a free, virtual, public workshop on Thurs, hosted by Reagan-Udall Foundation for FDA & focused on #ClinicalDevelopment in primary #MitochondrialDiseases. Starting ~1:30pm, Tisento’s Chad Glasser will present learnings from our MELAS development program. Register: reaganudall.org/news-and-eve...

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We’re proud to advance patient-focused therapeutic development for #MitochondrialDiseases at two important events. #ReaganUdallFoundationForFDA #MitoAction #ClinicalDevelopment #MELAS www.tisentotx.com/news/tisento...

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MHRA grants Promising Innovative Medicine designation to UCB’s DoxTM for TK2d - PharmaTimes UCB’s developmental treatment may be eligible for patient access

#rarediseases #MHRA #UK #PIMdesignation #UCB #DoxTM #TK2d #ThymidineKinase2Deficiency #TK2Deficiency #patientaccess #TK2geneticmutation #mitochondrialDNAdepletion #EarlyAccesstoMedicines #EAMS #MitochondrialMedicine #Mitochondrialdiseases
pharmatimes.com/news/mhra-gr...

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Scientists just discovered a single molecule that may treat rare, devastating mitochondrial diseases Scientists found a compound that appears to counter common mutations behind POLG-related diseases, rare conditions that harm mitochondrial DNA.

Scientists just discovered a single molecule that may treat rare, devastating mitochondrial diseases #Science #HealthandMedicine #Genetics #MitochondrialDiseases #GeneticResearch #HealthInnovation

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Fu et al, Engineering mtDNA deletions by reconstituting end joining in human mitochondria
https://www.cell.com/cell/abstract/S0092-8674(25)00194-1?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0092867425001941%3Fshowall%3Dtrue

Fu et al, Engineering mtDNA deletions by reconstituting end joining in human mitochondria https://www.cell.com/cell/abstract/S0092-8674(25)00194-1?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0092867425001941%3Fshowall%3Dtrue

A new collection of papers on #mitochondrialdiseases is ready: biomed.news/bims-mitdis/...
Congratulations to all authors!

@biomednews.bsky.social @mitoscientist.bsky.social @gavinmcstay.bsky.social

Highlight: Engineering mtDNA deletions by reconstituting end joining in human mitochondria

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Revolutionary Drug Mimics High-Altitude Health Benefits In the quest for longevity and improved health, scientists are exploring unconventional avenues that mimic the physiological benefits of high-altitude living. Researchers from the Gladstone Institutes have made a groundbreaking advancement by developing a drug that replicates the cellular advantages of low-oxygen therapy, specifically targeting inherited mitochondrial diseases. This innovative approach could change the lives of many, particularly those battling deadly conditions like Leigh Syndrome.

READ THIS ARTICLE IN FULL ON BRAIN HEALTH ON-LINE: #HighAltitudeLiving #MitochondrialDiseases #LeighSyndrome #HypoxyStat #BiomedicalResearch #Longevity #HealthInnovation #DrugDevelopment #GeneticConditions #ClinicalTrials #OxygenTherapy #GladstoneInstitutes #MazeTherapeutics #CellularHealth #Brain

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My lab at #EmoryUniversity is seeking a #Postdoc candidate with expertise in #proteinbiochemistry to continue our exciting work on engineered protein therapies for #MitochondrialDiseases and #MetabolicDiseases. Email me to discuss this further. Please repost! #Proteinengineering #proteintherapy

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