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We have lots of wonderful talks to look forward to this month! If you would like to attend one of our lunchtime seminars, please drop us a message or email us at [email protected] NIHR Manchester Biomedical Research Centre MFT NHS The University of Manchester Siddharth Banka Bill Newman

The deadline for signing up for Genomics of Rare Disease is 11 March - join us! I'll be presenting insights into the genetics of rare neurodevelopmental conditions from population-based cohorts (UK Biobank + birth cohorts). Great international speaker line-up.

The first episode of our #ESHG Webinar Series was a great success! The recording is now on YouTube. 🔜 Episode 2 – March 26, 16:00 CET 📌 "The non-coding exome in rare disease" 🎙️ Nicola Whiffin Join for free on Zoom! Register here: buff.ly/l6d0fai

Happy International Women’s Day!We’re proud to support women in science through our MRCC visitorship programs, empowering them to share knowledge, collaborate, & build networks for a more inclusive future. Read about their experiences here:mrcc.org.uk/education-trai… European Society of Human Genetics (ESHG)

New international collaborative work incl. our discovery team describing mutations in the noncoding gene RNU2-2 as a cause of a neurodevelopmental disorder #ErasmusMC Mount Sinai Genetics Nature Genetics #WGS #epilepsy #NDD #ReNUSyndromeUnited #morbidgene nature.com/articles/s4158…

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 🌍

Our latest preprint identifies common and rare genetic variants impacting gene expression in the human retina, identifying hundreds of new eGenes and examples of rare single nucleotide and structural variants driving drastic changes in expression medrxiv.org/content/10.110…

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

📢Abstract submission is OPEN for the 20th Manchester Dysmorphology & Developmental Disorders Conference (MDC)! Browse past programmes & go on a journey through the history of #MedicalGenetics here: lnkd.in/ed9aKU7H Deadline: 6th June Submit here: shorturl.at/0SSY8

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

We are very excited to have Dr John McDermott speak at the Genomics England Research Summit this year. Dr McDermott's research focuses on the application of genomics in acute and everyday healthcare settings. There's still tickets left, register at: genomicsresearchsummit.co.uk

This preprint is now out after peer review! Check it out: cell.com/cell-genomics/… Huge congrats (and thanks!) to the whole team that contributed!

Listen to experts who attended the Manchester Dysmorphology and Developmental Disorders (MDC) Conference 2023 lnkd.in/eixFCUhP Remember you must have an abstract accepted to be able attend 20th MDC 16th-19th Nov 2025 lnkd.in/eP9pZy3Y

Manchester’s Bill Newman now doing the welcoming address as President of ESHG at #ESHG2025 in Milan UoM Biology, Medicine and Health

Rob Harkness #ESHG2025 Genetic risk of acute-onset axonal neuropathy following infection RCC1 is novel AR #DiseaseGene Onset ~18m #GuillianBarre-like Clinical course #ALS-like Proteins reduced thermal stability 🪰 reduced survival to paraquat stress papers.ssrn.com/sol3/papers.cf…

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…

Special note of thanks and appreciation to Siddharth Banka for overseeing this work and being an incredible supervisor.

This will improve diagnosis & treatment for thousands of patients 🌍 👏🏼 Amazing Adam Jackson 👍🏼 Nishi Thaker Alex Blakes 🙏🏼all collaborators Manchester Rare Conditions Centre MFT Research and Innovation NIHR Manchester Biomedical Research Centre Evolution, Infection and Genomics (EIG) UoM UoM Biology, Medicine and Health EpiGenRare - Rare Disease Research UK Rare Disease Research UK Unique nature.com/articles/s4158… 🧬

Lovely to see this out. Congratulations Adam Jackson and Siddharth Banka on some really exciting work :)

🧬 A breakthrough by MFT NHS and UoM Biology, Medicine and Health researchers could provide a genetic explanation for thousands of people with neurodevelopmental conditions. This paves the way for improved diagnosis and opens new doors for future treatments. Read more 👇 research.cmft.nhs.uk/news-events/ma…