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EpiGenRare - Rare Disease Research UK

@EpiGenRare

Official Rare Disease UK EpiGenRare account. Improving the lives of people with epigenetic rare conditions.
Manchester rd-research.org.uk/node/epigenrar… Joined May 2024
365 Following 59 Followers 40 Posts

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EpiGenRare - Rare Disease Research UK @EpiGenRare
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_GenomeX Nov 17, 2025
@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”
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EpiGenRare - Rare Disease Research UK @EpiGenRare
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_GenomeX Nov 17, 2025
@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/10.110…
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EpiGenRare - Rare Disease Research UK @EpiGenRare
📢 Final Call: Registration Closes 10th March!

🌟 1st EpiGenRare Conference
🗓️ 26th March 2025
🏨 Hyatt Hotel, Manchester
🎟️ FREE Registration: buytickets.at/rdrukepigenrar…

@RDRUKHub @smbanka @mikeyab6872
www.tickettailor.com 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...