Siddharth Banka
@smbanka
Followers
1K
Following
717
Media
16
Statuses
703
#Researcher #Clinician #Professor #GenomicMedicine #RareDisorders @OfficialUoM #ClinicalDirector @mft_iMRare #Chromatin #CNVs #IEMs 🧬🏏🇬🇧🇮🇳 #Manchester
Manchester (UK)
Joined July 2013
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 👇🏼 https://t.co/WMsMONvaRa
nature.com
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.
🧬 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’. 🔗 https://t.co/NPg8gpeNdA
3
9
30
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
0
1
10
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
https://t.co/WMsMONvaRa 🧬
nature.com
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.
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
https://t.co/sLRcoc0to5
2
6
31
📢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: https://t.co/PwVprOycoE 🔗 https://t.co/3UQqVLrOsb
0
4
5
❗️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
📢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: https://t.co/PwVprOycoE 🔗 https://t.co/3UQqVLrOsb
0
3
5
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!
0
2
8
I should provided the link in the text - https://t.co/zhXUoqUvod… Please use this to find more information about the conference, submit your abstract, and browse past programs, photos and videos.
0
0
2
I should provided the link in the text - https://t.co/91r9gQDNSr Please use this to find more information about the conference, submit your abstract, and browse past programs, photos and videos.
mrcc.org.uk
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 🌍
0
2
6
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?
@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! ❤️
0
0
2
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 🌍
2
7
25
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
0
1
4
🧬 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
0
1
6
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 👏
0
1
4
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
0
2
7
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
0
2
9
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 👏
0
1
5
Great talks from Dr Sean Flynn, Dr @CarolinaUggenti, Mr Evgenii Martrosian and Mr @adam_jackson89 at todays @EpiGenRare conference. @RDRUKHub @OfficialUoM @KingsCollegeLon
0
1
3
Wonderful talk @EpiGenRare @RDRUKHub conference from @adam_jackson89 @mft_iMRare @FBMH_UoM @MFTnhs presenting work on genome analysis of R-loop forming regions leading to discovery of RNU2-2P and RNU5B-1 non-coding gene neurodevelopmental disorders 👏
0
3
11
A great set of final presentations for @EpiGenRare projects. Thank you Dr Ramy Sadd, Carly Hood, Renske Oegema, Sarah Hilton, Wendy Bickmore Rare Disease Research UK for your wonderful talks. @RDRUKHub
0
1
5
Fantastic to hear from Sarah Hilton about the great work undertaken @nwgmsa @mft_iMRare delivering diagnostic episignatures @MFTnhs using whole genome methylation profiling for #RareDisease clinical service @EpiGenRare Node @RDRUKHub
#NHS
#TranslationalResearch
0
1
6