Absolutely thrilled 💣 to share our preprint 🖨️: "Mapping active cis-regulatory elements from transcription initiation events”. www.biorxiv.org/content/10.6... We introduce nucCAGE and PRIME to identify active cis-regulatory elements (CREs) and disease-associated, non-coding variants.
biorxiv.org
Visualising heteroplasmic mitochondrial DNA variants in situ? Now out as #mtDNA-smFISH in @cp-devcell.bsky.social! We find purifying selection against pathogenic mtDNA variants through genetic bottlenecks in the germline and the developing brain. www.cell.com/developmenta...
Single-molecule mitochondrial DNA imaging reveals heteroplasmy dynamics shaped by developmental bottlenecks and selection in vivo
Chandrasegaram et al. directly visualize mitochondrial DNA inside intact cells and tissues and reveal how genetic cell-to-cell variability arises during development. They show that somatic bottlenecks...
cell.com
@lilyfoundation.bsky.social is advertising for a new #PPIE Manager. This person will strengthen the teams’ ability to embed PPIE within the @lifearc.bsky.social as well as across the #mito community. @londonmito.bsky.social @mitonewcastle.bsky.social www.thelilyfoundation.org.uk/charity/what...
Join our team - The Lily Foundation
Explore our current job vacancies and find out how you can help fight mitochondrial disease.
thelilyfoundation.org.uk
Great to bring together 70+ researchers & partners at the LifeArc Centre for Rare Mitochondrial Diseases Annual Meeting in Cambridge last week! From scientific updates and flash talks to patient voice discussions it was a day full of insight and collaboration!
A Research Briefing on our MitoPerturb-Seq paper just came online @natsmb.nature.com too: www.nature.com/articles/s41.... Hopefully even more accessible than the manuscript! 😉
MitoPerturb-Seq identifies links between nuclear and mitochondrial genomes in single cells - Nature Structural & Molecular Biology
The replication, transcription and quality control of mitochondrial DNA are tightly regulated by nuclear-encoded mitochondrial proteins. We developed MitoPerturb-Seq, a high-throughput single-cell app...
nature.com
Jelle van den Ameele@jellevda.bsky.social · 4mo agoReally pleased to see this out @natsmb.nature.com: www.nature.com/articles/s41.... MitoPerturb-Seq combines #singlecell #CRISPR screening with whole-cell Multiome, to identify nuclear modifiers of mtDNA dynamics. @mitocamb.bsky.social @mrc-mbu.bsky.social @prudentlab.bsky.social and Stephen Burr
Really pleased to see this out @natsmb.nature.com: www.nature.com/articles/s41.... MitoPerturb-Seq combines #singlecell #CRISPR screening with whole-cell Multiome, to identify nuclear modifiers of mtDNA dynamics. @mitocamb.bsky.social @mrc-mbu.bsky.social @prudentlab.bsky.social and Stephen Burr
MitoPerturb-Seq identifies gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmy - Nature Structural & Molecular Biology
Burr and Auckland et. al develop MitoPerturb-Seq, which combines single-cell screening with multiomics to link nuclear genes to mitochondrial DNA (mtDNA) dynamics. They unveil core regulators of mtDNA...
nature.com
Fantastic to join the #EdinburghScienceFestival with our lab’s Stitch and Fly workshop! We had a highly interactive, fully booked session discussing our research alongside fruit fly-inspired stitching! Huge thanks to the PhD students in our lab and SBS public engagement team. #Drosophila #Genetics
Wonderful and honoured to write a perspective with @prudentlab.bsky.social @mrc-mbu.bsky.social on such an intriguing and cool observation of beautiful mitochondrial biology! Amazing work on how pearling allows mitochondrial genome organisation by @jclandoni.bsky.social @sulianamanley.bsky.social!
Juan C. Landoni@jclandoni.bsky.social · 4mo agoCheck out the fantastic perspective by @jellevda.bsky.social & @prudentlab.bsky.social on our #pearling work, out in the same @science.org issue! www.science.org/doi/10.1126/...
Really pleased to see this out @natsmb.nature.com: www.nature.com/articles/s41.... MitoPerturb-Seq combines #singlecell #CRISPR screening with whole-cell Multiome, to identify nuclear modifiers of mtDNA dynamics. @mitocamb.bsky.social @mrc-mbu.bsky.social @prudentlab.bsky.social and Stephen Burr
MitoPerturb-Seq identifies gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmy - Nature Structural & Molecular Biology
Burr and Auckland et. al develop MitoPerturb-Seq, which combines single-cell screening with multiomics to link nuclear genes to mitochondrial DNA (mtDNA) dynamics. They unveil core regulators of mtDNA...
nature.com
@jellevda.bsky.social @ritahorvath.bsky.social @lilyfoundation.bsky.social @londonmito.bsky.social @mitonewcastle.bsky.social
LifeArc@lifearc.bsky.social · 5mo agoLaunched to a positive reception in parliament yesterday, a new report – More trials, better data, faster access – outlines policy changes that would have huge impact for people with rare diseases. 👉 Read the report now: t.ly/LJRi4
We probably shouldn’t have favourites amongst projects in the lab, but this one was mine. I’m so pleased we can finally share it: Our work is now out in Nature Communications: 🔗 nature.com/articles/s41467-025-67692-7
nature.com
Closes 12/01/2026. A great team and a great centre to be a part of! @camneurodept.bsky.social @taylorlabncl.bsky.social @jellevda.bsky.social @ritahorvath.bsky.social @robpitceathly.bsky.social
www.gimjournal.org/article/S109... I am very proud of this new paper! Congratulations to Thiloka and the team of young researchers! 👍
Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants
Primary mitochondrial diseases (PMD) arise from variants in the mitochondrial or nuclear genomes. Phenotype-based recognition of specific PMD genotypes remains difficult, prolonging the diagnostic ody...
gimjournal.org
Excited to share our first bioinformatics contribution! 🎉 Led by Niek Wit in collaboration with the van den Ameele lab @jellevda.bsky.social , we developed DamMapper damid-seq.readthedocs.io/en/latest/, a workflow for DamID-seq analysis, to map SET1B and HIF-1 chromatin occupancy. rdcu.be/eK2TS
Mapping SET1B chromatin interactions with DamID using DamMapper, a comprehensive Snakemake workflow
rdcu.be
Delighted that Ziqi Dong's PhD paper is out for all to read! Hypoxia is fundamental to normal development, and fascinating! Thanks to all of our co-authors including @jamesnathanlab.bsky.social @jellevda.bsky.social authors.elsevier.com/sd/article/S...
Bluesky, I am pleased to present to you the main product of postdoc work, published in @science.org ☝️ As it turns out, the very quality control mechanism that can remove mutant mtDNA copies is the one that maintains high mutant burden, or heteroplasmy levels
This is amazing news!! @camneurodept.bsky.social @mrc-mbu.bsky.social @jellevda.bsky.social @ritahorvath.bsky.social @mito-news.bsky.social
The Lily Foundation@lilyfoundation.bsky.social · 12mo ago📢 BREAKING NEWS! The first ever treatment for a mitochondrial disease has been approved for use by NHS England! Idebenone is now available for LHON patients A huge milestone for the mito community! 💥 www.thelilyfoundation.org.uk/news/first-e... @mitocamb.bsky.social
📢 We are hiring a Senior Research Associate in Bioinformatics & Statistical genetics @cam.ac.uk @mrc-mbu.bsky.social @camneurodept.bsky.social @jellevda.bsky.social It's a great time to join this dynamic and world leading team working on #mitochondria Closes 28/8/25 www.cam.ac.uk/jobs/senior-...
Senior Research Associate (Fixed Term)
Nuclear-mitochondrial genetic interactions in health and neurodegenerative diseases Fixed-term: The funds for this post are available until 30 September 2028 in the first instance. The University of
cam.ac.uk
Welcome to the new serie of Cambridge Fly Club meetings. We organise several events every year to foster collaboration and maintain a positive dynamic between Drosophila groups in Cambridge.
Thanks to @lilyfoundation.bsky.social for taking these snaps of the centre leads and team members! Together we hope to do great things over the next 5 years of the LifeArc Centre! #mito @ucl-qs-cnmd.bsky.social @taylorlabncl.bsky.social @ritahorvath.bsky.social @jellevda.bsky.social
We spent a great afternoon at the House of Lords for the launch of the @lifearc.bsky.social Centre for #Rare #Mitochondrial Diseases, supported by @mdukcharity.bsky.social The event centre hosted staff, dignitaries, patients, MPs & those involved in rare disease policy & research. We even unveiled…
It was a great day and a fantastic #PPIE workshop!! @lifearc.bsky.social @ritahorvath.bsky.social @jellevda.bsky.social @robpitceathly.bsky.social @taylorlabncl.bsky.social @dwong47.bsky.social @mitogene.bsky.social @mrc-mbu.bsky.social @mitonewcastle.bsky.social @uclqsion.bsky.social
The Lily Foundation@lilyfoundation.bsky.social · last yr.Yesterday we were proud to join the launch of the LifeArc Centre for Rare Mitochondrial Diseases - a major step forward in mito research We led a workshop on making complex science clear – because involving patients is key to success #mitochondrialdisease #mitoresearch #patientvoice #raredisease
🚨 Join us for the @faseborg.bsky.social Meeting on Mechanisms of Mitochondrial DNA Mutation and Repair, June 1 - 5, 2025 | Nashville, Tennessee. 📅 Abstract submission & Early Registration close on April 20, 2025! Don't miss out: events.faseb.org/event/mitoch... Please re-post!
2x CRA posts extended until end of April. So you have another chance to work with #mito disease patients as part of the @lifearc.bsky.social centre for #rare #mito diseases! See links below to apply! @eastgenomics.bsky.social @camneuro.bsky.social @cuhnhs.bsky.social
Cambridge Clinical Mitochondrial Research Group@mitocamb.bsky.social · last yr.📢 We have not 1 but 3 clinical/patient-facing jobs working with #mitoCAMB on the #LifeArc #raredisease centre for #mito diseases. 1x pre/post-doctoral CRA; 1x post-doctoral CRA (with potential to become a 4 year ACL); 1x research coordinator Join us! Links below.
Our new preprint is out! We optimized our open-source platform, HyDrop (v2), for scATAC sequencing and generated new atlases for the mouse cortex and Drosophila embryo with 607k cells. Now, we can train sequence-to-function models on data generated with HyDrop v2! www.biorxiv.org/content/10.1...
We are hiring #bioinformaticians. One post to work on the new @lifearc.bsky.social centre for rare #mitochondrial diseases, and one is a joint project @mrc-mbu.bsky.social with Prof Patrick Chinnery & @mitogene.bsky.social Apply here: www.jobs.cam.ac.uk/job/50861/ www.jobs.cam.ac.uk/job/50860/
Bioinformatician - disease gene discovery - inherited mitochondrial diseases (Fixed Term) - Job Opportunities - University of Cambridge
Bioinformatician - disease gene discovery - inherited mitochondrial diseases (Fixed Term) in the Division of Neurology at the University of Cambridge.
jobs.cam.ac.uk
Exited to share our latest preprint! mRNA-LNPs are efficiently delivered to healthy livers, but what about liver tumours? Our postdoc @laura-leighton.bsky.social found liver tumours efficiently take up mRNA, enabling next generation mRNA-LNP cancer therapeutics. www.biorxiv.org/content/10.1...
All the jobs, all in one place!!
📢 We have not 1 but 3 clinical/patient-facing jobs working with #mitoCAMB on the #LifeArc #raredisease centre for #mito diseases. 1x pre/post-doctoral CRA; 1x post-doctoral CRA (with potential to become a 4 year ACL); 1x research coordinator Join us! Links below.
