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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.
We're delighted to announce that @RobPitceathly has been appointed as the new Head of Research Department of Neuromuscular Diseases @UCLIoN. He will commence his appointment on the 1st of May 2025. ucl.ac.uk/ion/news/2025/…
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Robert Pitceathly retweeted
We are pleased to share a new review published in @CellRepMed: “Emerging therapeutic strategies for mitochondrial DNA-related diseases”
Full article: doi.org/10.1016/j.xcrm…
#Mitochondria #mtDNA #GeneTherapy #GenomeEditing #RareDiseases #TranslationalMedicine
Full article: doi.org/10.1016/j.xcrm…
#Mitochondria #mtDNA #GeneTherapy #GenomeEditing #RareDiseases #TranslationalMedicine
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Robert Pitceathly retweeted
We are delighted to share a new open-access study by Dr Micol Falabella & colleagues, published in @natcomms: "COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy"
Paper: nature.com/articles/s4146…
Paper: nature.com/articles/s4146…
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Robert Pitceathly retweeted
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
bit.ly/4ge2Igd
bit.ly/4ge2Igd
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Robert Pitceathly retweeted
Thanks to @UCLIoN @UCLResearch for highlighting our paper: KL1333 trial results in mitochondrial diseases ucl.ac.uk/brain-sciences…
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Robert Pitceathly retweeted
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? @RobPitceathly @w_macken
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Robert Pitceathly retweeted
🚨 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: academic.oup.com/brain/article-…
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Robert Pitceathly retweeted
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…
ucl.ac.uk/work-at-ucl/se…
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Robert Pitceathly retweeted
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
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Robert Pitceathly retweeted
@RobPitceathly will be speaking at #ELRIGDD24 tomorrow as lead of the @MRCMouseNetwork Industry & Translation working group - looking forward to making some new connections!
And today we are at #ELRIGDD24 to bring our activities and #preclinical expertise to industry partners and the drug discovery community #DD2024
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Robert Pitceathly retweeted
The UCL portico has been green for mito all this week to raise awareness for this under-diagnosed group of diseases #worldmitoweek2024 #lightupformito @4Lilyfoundation
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Robert Pitceathly retweeted
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
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Robert Pitceathly retweeted
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. tinyurl.com/2yj7vxn6
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Robert Pitceathly retweeted
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
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🚨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 academic.oup.com/brain/article/…
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome academic.oup.com/brain/article/…
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Robert Pitceathly retweeted
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 justgiving.com/team/cnmd10k?u…
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Robert Pitceathly retweeted
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 ➡️ucl.ac.uk/work-at-ucl/se…
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