🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

1/ 🧬 A Hitchhiker’s Guide to Long-Read Genomic Analysis is out now Genome Research! This mini-review walks through the latest advances in long-read DNA sequencing — from assemblies to variant calling to epigenetics. Link 🔗 genome.cshlp.org/content/35/4/5… 🧵👇

📣 A huge milestone for AI in healthcare, the BHF Data Science Centre has helped researchers to train an AI model on secure NHS data, aiming to: 📈 Predict patient health outcomes 🤝 Help with clinical decision-making 📄 Support NHS planning 🔗 tinyurl.com/22nfymnv

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

NEW on medRxiv: Our team Bjornsson lab describes Pilarowski-Björnsson syndrome (PILBOS), a rare neurodevelopmental disorder caused by CHD1 variants—revealing sex-biased penetrance modulated by androgens. doi.org/10.1101/2025.0… #Genetics #Neurodevelopment #SexBias 1/

This is an amazing story which reveals a novel mechanism of sexual dimorphism in an autosomal dominant condition. Congrats Kimberley Anderson and thanks to all our collaborators that made this possible

At #kabuki syndrome meeting in Boston building clinical consensus guidelines… amazing teamwork…families participation…can be a great framework for all #RareDisease! Thank you Siddharth Banka!

Our GeNotes resource for mental health is now live! Explore our collection of articles written by clinicians for clinicians, with more to be added in the coming weeks: buff.ly/GMwT6JS #MentalHealthAwarenessWeek

Mental Health Awareness week The theme for Mental Health Awareness Week 2025 is 'Community' so it's the perfect time to celebrate the rare community, and the vital support provided by rare condition organisations. Please check out Rareminds #endNF2 #NF2awareness #schwannomatosis

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 👍🏼

📢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

Delighted to share 3 new articles, out today in World Psychiatry: 1 Latest Advances in Digital Mental Health onlinelibrary.wiley.com/doi/10.1002/wp… 2 Meta-Review of Physical Activity for MH onlinelibrary.wiley.com/doi/10.1002/wp… 3 Priorities & Opportunities for Lifestyle Psychiatry onlinelibrary.wiley.com/doi/10.1002/wp…

Privileged to be a physician-scientist in a time when efforts like these spanning genetics, engineering, & medicine come to fruition. Hats off to Kiran Musunuru, Rebecca Ahrens-Niklas ,Fyodor Urnov & more for this milestone in interventional genetics. nejm.org/doi/full/10.10…

Here are the indications used for the targeted approach. Paper is in press. #ESHG2025

Siddharth Banka #ESHG2025 R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene Clinical features of these new "RNU"pathies - Hypotonia, macrocephaly, seizures, FTT - explain 10-15 / 1000 rare NDDs medrxiv.org/content/10.110…

I saw the title and said “Stupid Flanders!” - then saw the author had gone above and beyond with the intro #eshg2025

📢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: forms.office.com/e/jziupyz04f 🔗mrcc.org.uk/news/2994/

❗️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/pages/response…

Wonderful to see our Babyscreen+ work on #value and #implementation of #Genomic_Newborn_Screening published in AJHG. The result reflect public preferences from 2509 members of the Australian public #healtheconomics #DCE

Wonderful to hear from Prof Jonathan Green UoM Biology, Medicine and Health CYP & Families Themed Meeting, chaired Shruti Garg & Dr Matthias Pierce. 🧠 ‘Re-imagining autism from the inside: neurodiversity, phenomenology and developmental science’ 🎧 Check out Association for Child & Adolescent Mental Health podcast: open.spotify.com/episode/5g6HwX…

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…