EpiGenRare - Rare Disease Research UK
@epigenrare
Official Rare Disease UK EpiGenRare account. Improving the lives of people with epigenetic rare conditions.
ID: 1795365773885517824
https://rd-research.org.uk/node/epigenrare/ 28-05-2024 08:05:50
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Delighted to announce the European Society of Human Genetics (ESHG) and Manchester Rare Conditions Centre Syndromology and Dysmophology Course in Manchester - 22nd & 24th October, Deadline for interest 12th July, see mrcc.org.uk/education-enga……
We are excited to announce the dates & venue for the 20th Manchester Dysmorphology Conference! Date: Sun 16th – Wed 19th November 2025. Venue: Hilton Hotel,Deansgate, Manchester. Check our socials & website(mrcc.org.uk) for updates on the conference Dian Donnai Siddharth Banka
Looking forward to hosting the Genethics Forum in Manchester on 1st Oct 2024! Ramona Moldovan Rare Disease Research UK
🚨Job alert 🚨 NW GMSA Generation Study Operational Manager Advert link 👉nhsjobs.com/job/UK/Manches… Find out more about the study👉generationstudy.co.uk and genomicsengland.co.uk/initiatives/ne… NWGMSA Manchester Rare Conditions Centre Genomics England
I wrote a blog post to break down the science behind RNU4-2 in a way that families could understand: rarediseasegenomics.org/blog/rnu4-2-th… Key lesson: truly lay writing is incredibly important, but also super hard (this took me a while!) If you have any RNU4-2 families, please do share!
Fantastic to hear our lead PI Bill Newman discuss #genomic testing to prevent #adversedrugreactions #pharmacogenomics
Exciting research is taking place in Manchester! Check out our publications page on our new website! mrcc.org.uk/research-innov… Dian Donnai Dinesh Chawla Siddharth Banka NIHR Manchester Biomedical Research Centre Bill Newman
🚨Job alert ‼️ Join our research team jobs.manchester.ac.uk/Job/JobDetail?… #ResearchTechnician #RareDisease #StemCells #KabukiSyndrome #ChromatinDisorders Manchester Rare Conditions Centre EpiGenRare - Rare Disease Research UK Evolution, Infection and Genomics (EIG) UoM UoM Biology, Medicine and Health Sara Cuvertino Adam Jackson
👏 Congratulations to Dr Neil Roberts on being awarded a Medical Research Council grant to develop a new gene therapy for the rare bladder disease, urofacial syndrome. This follows his project funded by Manchester BRC's Next Generation Therapeutics Theme through Translation Manchester’s A2E scheme.
Hear Prof Bill Newman, Manchester BRC Rare Conditions Co-Theme Lead, discuss the partnership between MFT NHS, Bruntwood SciTech and APIS Assay Technologies to develop a pharmacogenomics passport 📽️👇