Robert Pitceathly @RobPitceathly
Professor of Clinical Neurology and Mitochondrial Medicine @UCLIoN | Lead @MRCMitoCluster | Co-lead @LondonMito ucl.ac.uk/ion/pitceathly… Queen Square, London Joined April 2016-
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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
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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…
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
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-…
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…
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
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!
@RobPitceathly will be speaking at #ELRIGDD24 tomorrow as lead of the @MRCMouseNetwork Industry & Translation working group - looking forward to making some new connections!
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
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
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.
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.
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
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…
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…
Robert Pitceathly retweeted
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 @DiegoKaski @NeziRenascence @RobPitceathly and Sarah Holmes.
Robert Pitceathly retweeted
So exciting to meet patients & their families interested in joining our Lily Precision Diagnostics study this weekend!
So exciting to meet patients & their families interested in joining our Lily Precision Diagnostics study this weekend!
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The Lily Foundation @4Lilyfoundation
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MITOtalks @MitOtalks
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Neurology Journal @GreenJournal
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Dr Tas Braithwaite @tasbraithwaite
896 Followers 627 Following #Uveitis #NeuroOphth Consultant working on #epidemiology #bioinformatics #GRS #PROMs @kingshealth @GSTTnhs @KCLImmunoMicro @lifecourse_KCL @ARVOinfo APMC
NCL_RareDisease @NCL_RareDisease
612 Followers 837 Following @UniofNewcastle Centre of Excellence for Rare Disease works with @NewcastleHosps @NHIPartners & more, to constitute a 'Newcastle RD' community(Tweets V.Hedley)
Oxford-Harrington Rar... @OHRareDisease
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Jack Zhang Lab @zhang_lab
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Taylor Lab @taylorlabncl
237 Followers 333 Following Investigating molecular mechanisms associated with mitochondrial disease and disorders of autophagy @mitoresearch @NewcastleUni @NewcastleHosps @NEYgenomics
Dervis Salih @DervisSalih1
5K Followers 6K Following Scientist studying molecular links between Alzheimer's, Ageing, microglia & diet @UCL @UKDRI @ARUKnews #Dementia Trained @BabrahamInst @Cambridge_uni @Stanford
Wilkie Lab @Wilkie_Lab
355 Followers 335 Following Based in @MRC_WIMM at @UniofOxford, our researchers work with NHS craniofacial teams around the UK to advance understanding of the genetics of #craniosynostosis
Joseph Bateman @BatemanLab
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Jeremy Rees @jrees1712
158 Followers 172 Following Consultant neurologist with special interest in Neuro-oncology Father of 6 and grandfather of 4 so far
tisentotx @tisentotx
29 Followers 57 Following To those lacking effective treatment options: We hear you. And we are relentlessly driving toward much-needed solutions. #MELAS #MitochondrialDisease
Lucie Taylor @lucieshell
175 Followers 162 Following Mitochondrial Lab Technical Specialist & PhD student specialising in functional validation of Mito disease variants | @TaylorLabNCL @MitoResearch
Neuromuscular Study G... @NMSG_news
226 Followers 202 Following Follow us for Neuromuscular Study Group updates, including news of the NMSG24 conference. We welcome researchers working across pre-clinical & clinical study
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Val Stevenson @ValStevenson14
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Patricia González-Ro... @pgonzrodriguez
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Daniel A Tennant @tennantlab
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m.fruttiger @MFruttiger
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Charles Brenner, PhD @CharlesMBrenner
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Prof. Toshi Yokota Ph... @ToshifumiYokota
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Copp&Greene labs @NTDs_research
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Gabriel Esteban Valde... @GabboV
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328 Followers 634 Following Senior Research Fellow at The University of Sydney. Group Leader, Neurogenetics Research Group, Kolling Institute.
Philip Dunne @DrPipDunne
2K Followers 2K Following Molecular phenotyping in colorectal cancer. Reader in Belfast @QUBPGJCCR & Group Leader in Glasgow @CRUK_SI
UCL Stroke Research @UCLStrokeRes
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Alberto Sanz @albertosanzmon1
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Zach Gerhart-Hines @Z_GerhartHines
2K Followers 959 Following Associate Professor @ Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen & Chief Technology Officer @ Embark Laboratories
Gaurav @varshneylab
1K Followers 736 Following Interested in zebrafish, gene editing, and disease modeling. Opinions are my own and not the views of my employer.
Prof Heather Mortiboy... @HeatherMortiboy
878 Followers 404 Following Professor of Cellular Neuroscience and Metabolism at SITraN. Interested in mitochondria and neurodegenerative diseases. Talking great science. All views my own
MRC NMGN Congenital A... @NMGN_CongAnom
71 Followers 99 Following MRC National Mouse Genetics Network - Congenital Anomalies Cluster: Patient-led Functional Genomics
Norbert Weiss @TheWeissLab
4K Followers 3K Following Neuroscientist @UniKarlova @CharlesUniPRG @3LFUK studying #calcium #ionchannels & #channelopathies | Associate Editor @tandfchannels | Free time @NWeissphotos
E-mit @Emit38935125
1K Followers 423 Following European Society for Mitochondrial Research and Medicine
Michal Tal, PhD @ImmunoFever
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Aya Tarabeine @AyaTarabeine
86 Followers 141 Following 🔬 MRes on Mitochondrial Diseases at @UCLIoN 👩🏽🔬 Academic Representative @sartoriusglobal • 🎙️Host of https://t.co/UI9n78fds1
Christopher Carroll @Carroll_C_J
280 Followers 286 Following Research Group Leader in Human Genetics, mitochondria and metabolism, ataxia
Reza Maroofian @RMaroofian
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Dr Katherine Forsey @DrBiol
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