🔥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

A great start to the Manchester European Society of Human Genetics (ESHG) syndromology & dysmorphology course! Thank you Sofia Douzgou Houge for opening the course & Dian Donnai & Emma for your presentations on fundamentals of dysmorphology & syndromes of the Ras MAPK & P13K pathways. Siddharth Banka

Day 2 of Manchester European Society of Human Genetics (ESHG) Syndromology & Dysmorphology Course!A sneak peak into 2 talks at today's conference: Stefan Barakat presented Beyond DNA sequencing & disorders of the non-coding genome & Prof Andrew Wilkie presented on Craniosynostosis. Siddharth Banka Sofia Douzgou Houge

A sneak peak into day 3 of Manchester European Society of Human Genetics (ESHG) Syndromology & Dysmorphology course: Prof Simon Jones presented Clinical Trails In Rare Diseases & Sarah Wynn presented Resources For Patients & Families.We had to have a mandatory group photo! Siddharth Banka Sofia Douzgou Houge Dian Donnai

An honour and a pleasure to give the keynote ‘Clinical genetics in the omics era’ for the 25th anniversary of the Lisbon medical genetics service. The sessions were beautifully concluded by a photographic exhibition by the patients and families, the heart of what we do

Great first day in Bucharest for the ERN-ITHACA Board meeting! #RareDiseases Guidelines, registries, mental health, grief, family resilience... Thank you to our Patient Advisory Board for setting up a great program, & see you tomorrow for more!

ITHACA Board Day 2 now over: all workgroups presented their achievements and projects along a few other talks such as the much awaited JARDIN Joint Action presentation or Sofia Douzgou Houge demonstration of the also longed for #CPMS 2. Thank you to all and now on to the Research Workshop!

Abstract submission for #eshg2025 is open! The Scientific Programme Committee invites abstracts to be submitted for inclusion in the programme as posters or oral presentations until 30th January 2025. More information found on the conference website: 2025.eshg.org/abstracts/

Announcing new free ESHG webinar series! 🗓️ Last Wednesday of each month 📅 First episode: Feb 26, 2025 (16:00 CET) 🎤 Speaker: Malte Spielmann 💡 Topic: "The Dark Side of the #Genome: Challenges & Opportunities in the Post-Genomic Era" 🔗 Register now: wma.eventsair.com/eshg-webinar-s…

Excited to join the 2025 Scientific committee of the famous conference for those interested in shaping best practices for the clinical use of genomics data. Save the date and note the abstract and registration deadlines!

Our wonderful course in beautiful Bertinoro is coming up again! Strongly recommended - great speaker line-up once again! European Society of Human Genetics (ESHG) eshg_young Human Genetics Nijmegen, Radboudumc Junge Humangenetik Società Italiana Genetica Umana BeSHG

Already submitted your consented,distinctive unsolved or instructive solved cases to #ESHG2025?Take the chance & submit today!The best case presentation from a trainee in medical/clinical genetics will receive the ‘Dian Donnai and Jill Clayton-Smith’ prize buff.ly/4bc5UqT

Important deadline for our case discussions ! 👍

Could not agree more! Submit your consented cases 💫

The abstract deadline for Curating the Clinical Genome is approaching! #CCG2025 Submit by 15 April⏰ Present your research to leaders working in the clinical #genomics and #biodata communities, and build your professional profile.🧬 📅11 - 13 June 📎 bit.ly/4fb77QI

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 🌍

The #eshg2025 virtual platform & the ESHG 2025 app are now online! Read through our tips of using the platform, check out the conference programme and prepare your visit to Milan today: 2025.eshg.org/myconference/h… and 2025.eshg.org/myconference/c…

We are starting off #eshg2025 early tomorrow, with the first Dysmophology workshop at 08:30 in Room Brown 1+2. Along with my co-chairs Peter Krawitz and Arjan Bouman, we are looking forward to a selected line-up of cases including unsolved mysteries …🤩🤓

🧬 IT'S RARE CHROMOSOME AND GENE DISORDER DAY 2025, #RareChromoDay We're so excited to share two publications. Have a read, share and let us know what you think in the replies💬 - The Little Red Book: rarechromo.org/little-red-boo… - 'Unique experiences' report: rarechromo.org/get-ready-for-…