Official Rare Disease UK EpiGenRare account. Improving the lives of people with epigenetic rare conditions.
Manchester
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Fantastic talks this morning during the EpiGenRare Symposium session at the 20th Manchester Dysmorphology and Developmental Disorders Conference 2025.
#MDC25 #RareDisease #clinicalgenetics #Genetics
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
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
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
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
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
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
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
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
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
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…
🧬 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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EpiGenRare - Rare Disease Research UK retweeted
🚨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
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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
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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
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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
📢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
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
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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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EpiGenRare - Rare Disease Research UK retweeted
🧬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
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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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