mdpi.com/2039-4349/14/3… I am proud to share our latest paper, reporting patient opinions of specialist audiovestibular assessment in the home instead of hospital. Thanks to Diego kaski Nezi Koohi Robert Pitceathly and Sarah Holmes.

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

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 UCL Queen Square Institute of Neurology on advanced omic technologies in primary #mito disease. Apply by 16 July ➡️ucl.ac.uk/work-at-ucl/se…

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 UCL Brain Sciences UCL Queen Square Institute of Neurology #JustGiving justgiving.com/team/cnmd10k?u…

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. tinyurl.com/2yj7vxn6

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.

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. tinyurl.com/mwb46rya

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

Robert Pitceathly will be speaking at #ELRIGDD24 tomorrow as lead of the MRC National Mouse Genetics Network Industry & Translation working group - looking forward to making some new connections!

And now Robert Pitceathly of the MRC MitoCluster reporting to #ELRIGDD24 about the network and what we can do to advance #therapeutics for #geneticdiseases making use of our #mousemodels at Mary Lyon Centre at MRC Harwell

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. ucl.ac.uk/work-at-ucl/se…

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

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 humgenomics.biomedcentral.com/articles/10.11… - shall we include it in the testing panels? Robert Pitceathly Will Macken

Thanks to UCL Queen Square Institute of Neurology UCL Research for highlighting our paper: KL1333 trial results in mitochondrial diseases ucl.ac.uk/brain-sciences…

An early clinical trial, led by researchers at UCL Queen Square Institute of Neurology, shows promising results for adults with primary mitochondrial disease, with reduced fatigue and improved functional strength. Chiara Pizzamiglio Robert Pitceathly bit.ly/4ge2Igd