#Researcher #Clinician #Professor #GenomicMedicine #RareDisorders @OfficialUoM #ClinicalDirector @mft_iMRare #Chromatin #CNVs #IEMs 🧬🏏🇬🇧🇮🇳 #Manchester
Manchester (UK)
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Siddharth Banka retweeted
Final talk from the first session (Vascular and Connective Tissue) of Day 3 #MDC25
🗣️@Canaudlab on Targeted therapies for KRAS-related vascular malformation
💊#PIK3CA inhibition seems promising while waiting for new alternatives
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Siddharth Banka retweeted
20th Manchester Dysmorphology and Developmental Disorders Conference opened with a warm welcome from @mft_iMRare Clinical Director @smbanka
Celebrating the history of the conference, we were treated to a glimpse of the original 1984 programme curated by 👑🧬 @Ddysmo #MDC25
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Siddharth Banka retweeted
The MRCC team are all set up and ready to welcome guests to the 20th Manchester Dysmorphology & Developmental Disorders Conference #MDC25 #RareDisease
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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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Siddharth Banka retweeted
MDC 2025 Abstract Deadline Extended!
We have extended the submission deadline to Tuesday 10th June! Remember you must have an abstract accepted to be able attend 20th Manchester Dysmorphology and Developmental Disorders Conference 16th-19th Nov 2025 mrcc.org.uk/events/conferenc…
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This will improve diagnosis & treatment for thousands of patients 🌍
👏🏼 Amazing @adam_jackson89
👍🏼 @NishiThake91821 @DrABlakes
🙏🏼all collaborators
@mft_iMRare @MFT_Research @ManchesterBRC @EGS_UoM @FBMH_UoM @EpiGenRare @RDRUKHub @Unique_charity
nature.com/articles/s41588-0…
🧬
We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary structure and identifies two novel #diseasegenes
nature.com/articles/s41588-0…
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Siddharth Banka retweeted
📢Clinicians: This is your last chance to lead the development of new Unique Information Guides for rare genetic neurodevelopmental disorders using a cutting-edge AI solution. Final deadline: 6ᵗʰ June. Submit your proposal here: forms.office.com/e/jziupyz04…
🔗mrcc.org.uk/news/2994/
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Siddharth Banka retweeted
❗️DEADLINE EXTENDED for our AI project.
Clinicians - propose a rare genetic neurodevelopmental disorder for a new Unique information guide by 6th June 2025.
Learn more via our form or get in touch with any questions: forms.office.com/pages/respo…
📢Clinicians: This is your last chance to lead the development of new Unique Information Guides for rare genetic neurodevelopmental disorders using a cutting-edge AI solution. Final deadline: 6ᵗʰ June. Submit your proposal here: forms.office.com/e/jziupyz04…
🔗mrcc.org.uk/news/2994/
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Hi Pankaj. Agree, fantastic meeting. Shows how valuable it is for patient organisations and motivated clinicians to work together. So grateful for all your contributions and fabulous to finally to meet you in person 👍🏼
At #kabuki syndrome meeting in Boston building clinical consensus guidelines… amazing teamwork…families participation…can be a great framework for all #RareDisease! Thank you @smbanka!
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First organised by Prof. Dian Donnai in 1984, the MDC is now a leading biennial international event for experts in 🧬 #Dysmorphology #CongenitalMalformations
#NeurodevelopmentalDisorders
#GenomicMedicine #RareConditions
Looking forward to welcoming friends from around the 🌍
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I should provided the link in the text - mrcc.org.uk/education-trai…
Please use this to find more information about the conference, submit your abstract, and browse past programs, photos and videos.
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I should provided the link in the text - mrcc.org.uk/education-traini…
Please use this to find more information about the conference, submit your abstract, and browse past programs, photos and videos.
First organised by Prof. Dian Donnai in 1984, the MDC is now a leading biennial international event for experts in 🧬 #Dysmorphology #CongenitalMalformations
#NeurodevelopmentalDisorders
#GenomicMedicine #RareConditions
Looking forward to welcoming friends from around the 🌍
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What a ‘Unique’ coincidence! Perhaps reflects that it was the right time for the pioneers in our field to start attempting bringing like minded people together?
So the MDC is exactly the same age as @Unique_charity! ❤️ piped.video/KiOTh1kU4eU?si=y6xD…
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Siddharth Banka retweeted
Congratulations to Dr Clara Tang @kabukisyndrome, Mr Jacob Sampson, Dr Sean Flynn and @adam_jackson89 for winning the @EpiGenRare poster and presentation awards!
@smbanka @mikeyab6872 Wendy Bickmore Steven Ho
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Siddharth Banka retweeted
🧬 Wonderful to hear from Prof @wendy_bickmore director of @mrc_hgu @EdinUniv_IGC giving Keynote Lecture @EpiGenRare Node @RDRUKHub first conference in #Manchester
Presentation: “Rare Disease and Gene Regulation from the Non-Coding Genome”
#RareDisease
#Epigenetics
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Siddharth Banka retweeted
Great to hear from @_cmhood @mrccbu @Cambridge_Uni as part of session 3 of @EpiGenRare @RDRUKHub conference describing review findings that demonstrate distinct structural brain changes in Chromatinopathies 👏
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Siddharth Banka retweeted
Fantastic presentation @EpiGenRare @RDRUKHub conference from @evgenii_mart @mft_iMRare @FBMH_UoM describing transcriptomic and epigenomic changes in Kabuki Syndrome Type 1 iPSC models of neuronal differentiation
#KabukiSyndrome
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Siddharth Banka retweeted
Excited to be at the 1st Conference on the Epigenetics of Rare Disorders @EpiGenRare Node @RDRUKHub
Session 1 chaired by Prof @smbanka @mft_iMRare
We’re in for a fantastic line up! 📄
Prof Jones @NCL_RareDisease
Prof @mikeyab6872 @UniofExeter
Prof Hans van Bokhoven @radboudumc
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Siddharth Banka retweeted
Session 3 @EpiGenRare @RDRUKHub conference chaired by Prof Eamonn Maher and @DrABlakes
First up is Dr Ramy Saad @KingsCollegeLon @UCLchildhealth presenting genotype-phenotype relationships in SMARCB1-Related Intellectual Developmental Disorders using multimodal approaches 👏
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Siddharth Banka retweeted
Great talks from Dr Sean Flynn, Dr @CarolinaUggenti, Mr Evgenii Martrosian and Mr @adam_jackson89 at todays @EpiGenRare conference.
@RDRUKHub @OfficialUoM @KingsCollegeLon nitter.siddz.com/mft_iMRare/status/1904…
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