@EpiGenRare

Official Rare Disease UK EpiGenRare account. Improving the lives of people with epigenetic rare conditions.

 Manchester
rd-research.org.uk/node/epigenrare/
Joined May 2024
  • Tweets40
  • Following366
  • Followers59
6Media
Fantastic talks this morning during the EpiGenRare Symposium session at the 20th Manchester Dysmorphology and Developmental Disorders Conference 2025. #MDC25 #RareDisease #clinicalgenetics #Genetics
Tom Wright@TWright_GenomeX17 Nov 2025
Replying to @TWright_GenomeX @Ddysmo @alkuraya @mft_iMRare
Fantastic opening to day 2! First session (“C”) on Epigenomics of Rare Diseases (@EpiGenRare Symposium) First up Andrew Jackson @EdinburghUni 🗣️📰 A novel segmental ageing syndrome demonstrates DNA methylation causes multiple age-related pathologies #MDC25
Photo of Professor Andrew Jackson from the University of Edinburgh presenting at Day 2 of 20th Manchester Dysmorphology and Developmental Disorders Conference. This was the first presentation in the Epigenomics of Rare Diseases (MRC Node EpiGenRare Symposium) session at the conference. The slide on screen is a plot showing that CpG Methylation changes strongly correlate with chronological age, alongside the talk conclusion caption “DNA hypermethylation causes age-related pathologies”

ALT Photo of Professor Andrew Jackson from the University of Edinburgh presenting at Day 2 of 20th Manchester Dysmorphology and Developmental Disorders Conference. This was the first presentation in the Epigenomics of Rare Diseases (MRC Node EpiGenRare Symposium) session at the conference. The slide on screen is a plot showing that CpG Methylation changes strongly correlate with chronological age, alongside the talk conclusion caption “DNA hypermethylation causes age-related pathologies”

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Fantastic presentation from our EpiGenRare Co–Lead Investigator @mikeyab6872 at the 20th Manchester Dysmorphology and Developmental Disorders Conference. #raredisease #clinicalgenetics #genetics #MDC25
Tom Wright@TWright_GenomeX17 Nov 2025
Replying to @TWright_GenomeX @Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @PolicyLabCHOP
Next up @EpiGenRare co-lead @mikeyab6872 showed deficiency of histone lysine demethylase KDM5B alters histone methylation & gene expression in the developing brain 🧬 #KDM5B ⬆️ NMDAR signalling 💊 Memantine (NMDAR antagonist) rescues phenotype (🐭🧠) 📄 biorxiv.org/content/10.1101/…
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EpiGenRare - Rare Disease Research UK retweeted
Tom Wright@TWright_GenomeX17 Nov 2025
Replying to @TWright_GenomeX @Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @PolicyLabCHOP
Next up @EpiGenRare co-lead @mikeyab6872 showed deficiency of histone lysine demethylase KDM5B alters histone methylation & gene expression in the developing brain 🧬 #KDM5B ⬆️ NMDAR signalling 💊 Memantine (NMDAR antagonist) rescues phenotype (🐭🧠) 📄 biorxiv.org/content/10.1101/…
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Tom Wright@TWright_GenomeX17 Nov 2025
Replying to @TWright_GenomeX @Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @PolicyLabCHOP @mikeyab6872 @RDRUKHub
Next up Dr Aisha Al Shamsi described a pleiotropic multi-system disorder with prominent growth restriction phenotype and unique epigenetic signature caused by biallelic LoF variants in #FBXO22 📄 Check out the paper @AJHGNews pubmed.ncbi.nlm.nih.gov/4021… #MDC25
Photo from The 20th Manchester Dysmorphology and Developmental Disorders Conference showing Dr Aisha Al Shamsi’s presenting during the Epigenomics of Rare Diseases session (EpiGenRare Symposium). The slide is presents the summary of the talk describing findings from recent paper published in The American Journal of Human Genetics, titled “FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature”

ALT Photo from The 20th Manchester Dysmorphology and Developmental Disorders Conference showing Dr Aisha Al Shamsi’s presenting during the Epigenomics of Rare Diseases session (EpiGenRare Symposium). The slide is presents the summary of the talk describing findings from recent paper published in The American Journal of Human Genetics, titled “FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature”

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EpiGenRare - Rare Disease Research UK retweeted
Tom Wright@TWright_GenomeX17 Nov 2025
Replying to @TWright_GenomeX @Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @PolicyLabCHOP @mikeyab6872 @RDRUKHub @AJHGNews
Final talk in @EpiGenRare symposium @mft_iMRare from Dr Sara Cuvertino of @smbanka Lab @FBMH_UoM 🗣️ Improving diagnosis and mechanistic understanding of #KMT2D #BCAHH syndrome (branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism) 👏 #MDC25
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EpiGenRare - Rare Disease Research UK retweeted
Tom Wright@TWright_GenomeX17 Nov 2025
Replying to @TWright_GenomeX @Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @PolicyLabCHOP @mikeyab6872 @RDRUKHub @AJHGNews @smbanka @FBMH_UoM @OfficialUoM
Onto the next #MDC25 session: The Non-coding, Regulatory and Genomic Disorders First up @adam_jackson89 Beginning with an Arthur Conan Doyle 1892 quote, before outlining the story leading to discovery of RNU2-2 and RNU5B-1 neurodevelopmental disorders nature.com/articles/s41588-0…
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EpiGenRare - Rare Disease Research UK retweeted
Tom Wright@TWright_GenomeX17 Nov 2025
Replying to @TWright_GenomeX @Ddysmo @alkuraya @mft_iMRare @EpiGenRare @EdinburghUni @PolicyLabCHOP @mikeyab6872 @RDRUKHub @AJHGNews @smbanka @FBMH_UoM @OfficialUoM @adam_jackson89 @MFTnhs @j_ellingford @GenomicsEngland @StefanBarakat
Next up Dr Yaroslav Kainov @KingsCollegeLon 🧬 🗣️ Rare variants disrupting mRNA cleavage and polyadenylation associated with undiagnosed rare disorders 📃👉 Check out preprint medrxiv.org/content/10.1101/…
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EpiGenRare - Rare Disease Research UK retweeted
Siddharth Banka@smbanka9 Jun 2025
The paper ‘Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes’ is available Open Access from this link 👇🏼 nature.com/articles/s41588-0…

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder...

Nature Genetics - Genomic analyses focused on regions that form R-loops identify rare mutations in RNU2-2 and RNU5B-1 in individuals with neurodevelopmental disorders.

nature.com
NIHR Biomedical Research Centre: Manchester@ManchesterBRC9 Jun 2025
Replying to @ManchesterBRC
🧬 The team from Manchester BRC, @MFTnhs and @FBMH_UoM collaborated with scientists worldwide to analyse the genetic data of thousands of individuals. They studied parts of our genes which have previously been dismissed as ‘dark matter’ or ‘junk DNA’. 🔗 manchesterbrc.nihr.ac.uk/new…
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Manchester Rare Conditions Centre@mft_iMRare12 Mar 2025
🚨JOB VACANCY🚨 We are seeking a Project Manager to oversee research on rare conditions. If you're enthusiastic, organised & have prior experience in research project management. 📅 Apply by: 25/03/2025 🔗 jobs.manchester.ac.uk/Job/Jo… @GeneticBill @smbanka @RDRUKHub @ManchesterBRC

Project Manager - Rare Conditions (MRC Nodes, BRC and MRCC):Oxford Road

jobs.manchester.ac.uk
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📢 Final Call: Registration Closes 10th March! 🌟 1st EpiGenRare Conference 🗓️ 26th March 2025 🏨 Hyatt Hotel, Manchester 🎟️ FREE Registration: buytickets.at/rdrukepigenrar… @RDRUKHub @smbanka @mikeyab6872

Select tickets – 1st EpiGenRare Conference – Lewis Room, Hyatt Regency, Manchester

1st EpiGenRare Conference – Lewis Room, Hyatt Regency, Manchester, Wed 26 Mar 2025 - The 1st EpiGenRare Conference will bring together the highest quality research from across the globe in the field...

tickettailor.com
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📢 Call for Abstracts – 1st EpiGenRare Conference 📃 Deadline extended! Submit your abstract by 21st February using the link below: 👉 forms.office.com/e/GxhFZMf5H… 🗓 26th March 2025 | 10:00 - 16:30 📍 Hyatt Regency, Manchester 🎟 FREE Tickets: buytickets.at/rdrukepigenrar… @RDRUKHub
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📢Call for Abstracts - 1st EpiGenrare Conference 📃Please submit before 17thFeb using link below: forms.office.com/e/GxhFZMf5H… Event Details: 🗓️26th March 2025, 10:00 - 16:30. 🏨Hyatt Regency, Manchester 🎟️FREE Tickets here: buytickets.at/rdrukepigenrar… @RDRUKHub @smbanka @mikeyab6872

Please fill out this form

forms.cloud.microsoft
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🚨Agenda Announcement! 🌟1st EpiGenRare Conference 🗓️26th March 2025 🏨Hyatt Regency, Manchester 🎟️FREE Tickets: buytickets.at/rdrukepigenrar… 📃Call for Abstracts - Follow registration link for more details Deadline: Abstract Submission - 17 Feb 2025 @RDRUKHub @smbanka @mikeyab6872
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🚨Keynote Speaker Announcement 🌟Prof. Wendy Bickmore - University of Edinburgh 📢"Rare Disease and Gene Regulation from the Non-Coding Genome" ♦️1st EpiGenRare Conference 🗓️26th March 2025 🏨Hyatt Regency, Manchester 🎟️Tickets:buytickets.at/rdrukepigenrar… @wendy_bickmore @RDRUKHub
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🚨Keynote Speaker Announcement 🌟 Prof. Hans van Bokhoven - Radbound University, NL 📢“Strategies for upregulation of haploinsufficient genes using IPSC-derived neural cells” ♦️1st EpiGenRare Conference 🗓️26th March 2025 🎟️Tickets:tickettailor.com/events/rdru… @BokhovenHans @RDRUKHub
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EpiGenRare - Rare Disease Research UK retweeted
ELSI - Rare Disease Research UK@RDRUK_ELSI19 Dec 2024
📢REGISTRATION NOW OPEN📢 🚨1st ELSI Conference 🗓️26 March 2025 🏢Hyatt Regency, Manchester Please register your attendance for free using the link or QR code below buytickets.at/rdrukepigenrar… @ramonazmoldovan @RDRUKHub @annekeluc #RareDisease #ELSI #rareconditions
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EpiGenRare - Rare Disease Research UK retweeted
Siddharth Banka@smbanka2 Dec 2024
findaphd.com/phds/project/bi… 🚨New Fully funded PhD opportunity🚨 Examining the role of G-quadruplexes🧬in genetic disorders to discover new diseases and mechanisms @adam_jackson89 Prof Sue Kimber

(Bicentenary) Examining the role of G-quadruplexes in genetic disorders to discover new diseases...

PhD Project - (Bicentenary) Examining the role of G-quadruplexes in genetic disorders to discover new diseases and mechanisms at The University of Manchester, listed on FindAPhD.com

findaphd.com
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📢REGISTRATION NOW OPEN📢 🚨1st EpiGenRare Conference 🗓️26 March 2025 🏢Hyatt Regency, Manchester Please register your attendance for free using the link or QR code below buytickets.at/rdrukepigenrar… @smbanka @RDRUKHub #RareDisease #rarediseaseresearch
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Siddharth Banka@smbanka20 Nov 2024
🧬Genetic disorders - Mechanisms and Therapies 💉💊 🚨Join us as Lecturer/Senior Lecturer (Assistant/Associate Professor) in Genomic Medicine @EGS_UoM @OfficialUoM jobs.manchester.ac.uk/Job/Jo… @ManchesterBRC @mft_iMRare @MFT_Research @EpiGenRare @RDRUKHub

Lecturer or Senior Lecturer in Genomic Medicine:Manchester

jobs.manchester.ac.uk
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📅Save the Date! 📢Our 1st Annual Conference is happening on 26 March 2025 at the Hyatt Regency, Manchester (same day as @REOLUT and @RDRUK_ELSI Conferences & following the @RDRUKHub Node Annual Conference on 25 March 2025). 📷Stay tuned for registration and more information!
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