🔥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

We want to ensure that anyone affected by a rare chromosome or gene disorder can access information & support , regardless of their background. We're delighted to have reached the milestone of translating 500 of our information guides into languages other than English. 1/2....

That was a great “poster session” thanks PacBio! I’d propose this speaker for a poster price, great Q&A and interaction with audience #ashg23

If you've experienced male infertility, you could help shape future research in this area by completing the attached (quick) survey form. It's part of the PPIE process for a new study. Please RT: docs.google.com/forms/d/e/1FAI…

Save the date for the Pre-Conference Symposia on July 15-16, 2024! Join us for the 1st International Domestic Animal DoHad and Epigenetics Symposium. Check out the flyer to learn more! 👉 brnw.ch/21wGcHi #SSR2024 #ReproductiveScience

Our organisers will be presenting their work or leading discussion panels- join them in giving a platform presentation. The deadline for abstract submission is in 3 days! Register at mutationmeeting.com

Applications are now OPEN for an internship in my group at Oxford University. Open to UK undergraduates from under-represented and disadvantaged backgrounds – apply by Wednesday 21 February 2024 to join us this summer: ox.ac.uk/admissions/gra…

please RT

🚨 We are looking for males (or a parent) who have had #ChildhoodCancer 🚨to help us design a new resource to help other young males to make decisions about their future #Fertility. Interested? 👉 bit.ly/3StdXYS

Is genetic disposition to #dyslexia associated with brain structure? Sourena Soheili-Nezhad investigated in over 30,000 adults using data from UK Biobank & 23andMe Research , highlighting brain networks involved in motor, language and vision functions medrxiv.org/content/10.110… 1/8 ⬇️

Yuyang identified a highly recurrent de novo variant in Genomics England, in 46 individuals, all with undiagnosed NDD. It was not in any diagnosed probands, or unaffected individuals in GEL. It is absent from population cohorts, apart from a single individual in UK Biobank. 3/n

Heading to Denver for NATW and the American Society of Andrology Annual Meeting. Truly honored to deliver the keynote address.

A free event about fertility, featuring a live interactive video game - what's not to like?!

📢New from alistair pagnamenta & colleagues 📰The impact of inversions across 33,924 families with rare disease from a national genome sequencing project #genomes100k cell.com/ajhg/fulltext/…

Pregnancy decisions can be hard after having a child w/ a genetic condition. Latest @Gorielylab research on a new strategy:“Professionals’ views on providing personalized recurrence risks for de novo mutations”Dr Ali Kay 🧬📚🌳 JWells Anne Goriely NHallowell bit.ly/4cgOr0o 1/10

⚽️ Kicking off #ESHRE2024 annual conference with @JanStukenborg speaking at the pre-congress course on #FertilityPreservation. Looking forward to 4 days of reproductive medicine 🥅

📢Online now! 📰SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline 🧑‍🤝‍🧑Dr Katherine Wood Anne Goriely & colleagues cell.com/ajhg/fulltext/…

🚨 Job alert Hiring a postdoc (comp or wet lab) to work on chromatin & genetics 🧬 Come work with us Centre for Human Genetics in the beautiful University of Oxford 🗓️ Closing September 13th Details at beagrielab.com/join Pls share and RT! #PostdocJobs #GeneticsJobs #genomics #cohesin

Genetic underpinnings of menopause age and connections with cancer risk, new mutations in children and reproductive longevity nature nature.com/articles/s4158… Anna Murray nature.com/articles/d4158… Anne Goriely Nature News & Views

#IPNA2025 Update on Inherited Diseases: Awesome speakers this morning. I gave a quick rundown on which children to test! Paeds Nephro is really using genomics to benefit our patients! Time for #Africa to adopt #genomics in kids kidney care! RareDiseaseGenomicsRSA >50% diagnosis!

What’s it like to be told your child has a genetic condition caused by a de novo (new) genetic change? Did it impact how you felt about having more children? Our NIHR-funded interview study at the University of Oxford is now open to participants. #genetics #diagnosis #DeNovo