
Manchester Rare Conditions Centre
@mft_imrare
Official Manchester Rare Conditions Centre account. Improving lives of people with rare conditions
ID: 1538901678652522496
http://www.mrcc.org.uk/ 20-06-2022 15:08:55
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Great talks from Dr Sean Flynn, Dr Carolina_Uggenti, Mr Evgenii Martrosian and Mr Adam Jackson at todays EpiGenRare - Rare Disease Research UK conference. Rare Disease Research UK The University of Manchester King's College London pic.x.com/sN0Uckjq4z

An inspiring talk from Dr Sebastian Osorio-Rico from the University of Antioquia, Colombia, on what it is like to live with Urofacial or Ochoa Syndrome REOLUT - Rare Disease Research UK Rare Disease Research UK Bill Newman


It's great to hear such engaging discussions about the ELSI - Rare Disease Research UK node projects. Thank you Faye Johnson, Shane Doheny, and Susie Weller for your presentations. Also, a big shout out to Professor Angus Clarke for his talk on @FondationBrocher


A great set of final presentations for EpiGenRare - Rare Disease Research UK projects. Thank you Dr Ramy Sadd, Carly Hood, Renske Oegema, Sarah Hilton, Wendy Bickmore Rare Disease Research UK for your wonderful talks. Rare Disease Research UK


Thank you Steven for sharing your experience as a father of a child living with charge syndrome at the EpiGenRare - Rare Disease Research UK conference this afternoon. If anyone would like to learn about charge syndrome, check out their support group: chargesyndrome.org.uk


Congratulations to Dr Clara Tang Kabuki Syndrome Foundation, Mr Jacob Sampson, Dr Sean Flynn and Adam Jackson for winning the EpiGenRare - Rare Disease Research UK poster and presentation awards! Siddharth Banka Albert Basson 🏳️🌈 Wendy Bickmore Steven Ho


That's a wrap! 1st EpiGenRare - Rare Disease Research UK ELSI - Rare Disease Research UK REOLUT - Rare Disease Research UK conferences are over.A big shout to our amazing organisers, Gabrielle Parkinson & Henry Frost & dream support team Hannah Jackson & Eva Clarke for making this happen! Thanks to all inc patients & families Rare Disease Research UK The University of Manchester


We are so happy to receive such positive feedback from participants who took part in the European Society of Human Genetics (ESHG) European Society of Human Genetics course on Cardiac Genetics in Manchester this year. Thank you to all for sharing your expertise, knowledge and passion. Bill Newman



📢 This months free educational seminar series invites specialist speakers from University of Leeds and The University of Manchester to join us at MFT NHS Interested in attending? Email [email protected] to find out how.


We are calling clinicians to propose rare genetic neurodevelopmental disorders, which they will be willing to lead development of a new guide, with assistance of our generative AI model. Propose a condition by 30th May: forms.office.com/e/jziupyz04f NWGMSA Manchester Rare Conditions Centre



MDC Dian Donnai reflects,"MDC 23 was everything we hoped for in 1984—international, engaging, & full of insights into rare conditions.The complexity & emerging treatments exceeded expectations. I’m confident #MDC2025 will surpass it!"Submit your abstract here shorturl.at/w5Fw0



In 2023, 252 genomics experts from 50 countries attended MDC.Clara Tang,Director of Research Kabuki Syndrome Foundation shared that “it was a great chance to learn & connect with passionate clinicians and researchers focused on rare conditions like Kabuki syndrome.” shorturl.at/TsHSo



