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Siddharth Banka

@smbanka

#Researcher #Clinician #Professor #GenomicMedicine #RareDisorders @OfficialUoM #ClinicalDirector @mft_iMRare #Chromatin #CNVs #IEMs 🧬🏏🇬🇧🇮🇳 #Manchester
Manchester (UK) human-development.manchester.ac.uk/staff/153372/ Joined July 2013
326 Following 997 Followers 706 Posts

Latest posts 5

Siddharth Banka @smbanka
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/s4158…
www.nature.com 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.
NIHR Biomedical Research Centre: Manchester @ManchesterBRC Jun 9, 2025
🧬 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/news-and-event…
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Siddharth Banka @smbanka
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/s4158…
🧬
www.nature.com 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.
Adam Jackson @adam_jackson89 May 29, 2025
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/s4158…
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2 replies 6 reposts 30 likes 1.4K views View on X
Siddharth Banka @smbanka
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 👍🏼
Pankaj Agrawal Verified account @AgrawalPB_lab May 9, 2025
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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Siddharth Banka @smbanka
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.
www.mrcc.org.uk Manchester Dysmorphology and Developmental Disorders Conferences - Manchester Rare Conditions Centre
Siddharth Banka @smbanka Apr 26, 2025
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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Siddharth Banka @smbanka
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?
Sarah Wynn @swynn_unique Apr 26, 2025
@smbanka @Ddysmo @GeneticBill @John_H_McD @adam_jackson89 @DrABlakes @EGS_UoM @ManchesterBRC @mft_iMRare @RDRUKHub @ERNIthaca So the MDC is exactly the same age as @Unique_charity! ❤️ youtu.be/KiOTh1kU4eU?si…
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