It's an honour to take on this responsibility from a great role model such as Linda Greensmith, during an era of groundbreaking research in neuromuscular diseases. I look forward to supporting the success of our exceptional PIs, early-/mid-career researchers, staff, and students.

@UCLIoN @UCLBrainScience

An early clinical trial, led by researchers at @UCLIoN, shows promising results for adults with primary mitochondrial disease, with reduced fatigue and improved functional strength. @ChiaraPizzamig @RobPitceathly https://t.co/ZFukkUBgaG

Thanks to @UCLIoN @UCLResearch for highlighting our paper: KL1333 trial results in mitochondrial diseases

We analysed mitochondrial variation in cardiomyopathy patients from 100K genomes project and found the HCM causing m.4300A>G in 0.6% of (previously) genotype-"negative" HCM patients https://t.co/p19gYPe83I - shall we include it in the testing panels? @RobPitceathly @w_macken

🚨 Exciting news for mitochondrial disease research! Abliva's KL1333 Phase 1a/b study, published in @Brain1878, showed the drug is safe and demonstrates early signs of efficacy. A milestone for rare disease therapeutics! Read more:

Apply by 20 Oct! We are hiring a Research Assistant in #Bioinformatics to work on mitochondrial disease research and diagnostics. This is an opportunity to make a meaningful impact on patients' lives while contributing to cutting-edge research. https://t.co/ZhvnuPPr8J

And now @RobPitceathly of the @MRCMitoCluster reporting to #ELRIGDD24 about the network and what we can do to advance #therapeutics for #geneticdiseases making use of our #mousemodels at @MRCHarwell

@RobPitceathly will be speaking at #ELRIGDD24 tomorrow as lead of the @MRCMouseNetwork Industry & Translation working group - looking forward to making some new connections!

The UCL portico has been green for mito all this week to raise awareness for this under-diagnosed group of diseases #worldmitoweek2024 #lightupformito @4Lilyfoundation

Nakamura et al. study biallelic variants in PNPLA8. Using brain organoids, they show that PNPLA8 regulates phospholipid metabolism, and that its loss leads to developmental defects by reducing the number of basal radial glia. https://t.co/hzbE4doNIL

Our new study shows biallelic PTPMT1 variants disrupt cardiolipin metabolism, leading to a progressive neurodevelopmental disorder. This aligns with our recent work on PNPLA8, highlighting cardiolipin’s role in brain & mitochondrial function, & its importance in neurodevelopment.

PTPMT1 is required for biosynthesis of the mitochondrial phospholipid, cardiolipin. Falabella et al. show that loss of PTPMT1 function is associated with a primary mitochondrial disease, highlighting the role of cardiolipin homeostasis in neurodevelopment. https://t.co/o4uWW9a7Qx

@Brain1878 @LondonMito @UCL_QS_CNMD @UCLIoN @UCLBrainScience @RMaroofian @MikeHanna18 @MRC_MBU @LabPrudent @HorvathLab @MRCMitoCluster

🚨Advance article alert - mutant PTPMT1 impairs cardiolipin metabolism causing human disease. Fantastic collaborative effort across several continents! Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

@UCL_QS_CNMD @UCLIoN @UCLBrainScience @RMaroofian @MikeHanna18 @Brain1878 @MRC_MBU @LabPrudent @HorvathLab @MRCMitoCluster

Thank you to our really great and dedicated UCL UCLH Centre for Neuromuscular Diseases team for today completing our 15th annual 10K run raising funds to advance our patient care and research @uclh @UCLBrainScience @UCLIoN #JustGiving https://t.co/QAeQb5aphG

Recruiting a Clinical Research Fellow to join us at @UCL_QS_CNMD! This role offers clinical training in genomic medicine of #neuromusculardisease alongside a PhD at @UCLIoN on advanced omic technologies in primary #mito disease. Apply by 16 July ➡️ https://t.co/DxiVK6W3Bo

https://t.co/fLhR0XgEiM I am proud to share our latest paper, reporting patient opinions of specialist audiovestibular assessment in the home instead of hospital. Thanks to @DiegoKaski @NeziRenascence @RobPitceathly and Sarah Holmes.

So exciting to meet patients & their families interested in joining our Lily Precision Diagnostics study this weekend!