Case Submission for the Dysmorphology workshops #eshg2024 until April 10! Cases of distinctive/rare dysmorphic patterns, from low/middle income countries, with prior #GestaltMatcher analysis or of significant academic/educational value will be prioritized! 2024.eshg.org/programme-at-a…

The #ESHG Education Committee is on the lookout for enthusiastic members to lead our Mentorship & Observership Program as well as Podcasts & Digital Learning initiatives. If you're passionate about #education and #genetics , apply now! Deadline: May 3rd
tools.medacad.org/index.php/eshg…

open.spotify.com/episode/0H1179…

In this episode, we discuss how migration influences our practice and the central value of Genetic Counselling Nichola Garde Mariangels Ferrer Duch Sofia Douzgou Houge European Society of Human Genetics (ESHG) Genetic Counselling
#GeneticCounsellors

News about the European Society of Human Genetics (ESHG) Dysmorphology workshops! A dedicated pre-submission portal and, the ‘Dian Donnai and Jill Clayton-Smith’ prize for the best case presentation! Case Submission Deadline: April 10, 2024. More info here
2024.eshg.org/programme-at-a…

Join European Society of Human Genetics (ESHG), thewhitworthgroup and eshg_young in listening to our brillinat experts Peter Krawitz, Tanja Zdolsek Draksler, Kleefstra Syndrome #kleefstra for 'E2 - Human Genetics and Artificial Intelligence' at eshg.buzzsprout.com/1931247/145530…

Brilliant idea, wherever you are in the world, send a video to show ‘what’s your rare’ ! Sjeldne diagnoser Frambu kompetansesenter for sjeldne diagnoser ERN-ITHACA

Proudly introducing the 3rd series of the European Society of Human Genetics (ESHG) podcast #GeneticSounds . With great thanks to thewhitworthgroup, Chaya Nautiyal Murali and Abraham Mamela / Genome Adventures open.spotify.com/episode/7sCoGh…

X 40 individuals have taken part in helping us understand adulthood and KBG Syndrome better. We have more spaces for anyone aged 16 or over with KBG Syndrome and have made the questions available in 6 languages!

We Haukeland are very proud to be the Norwegian node of the project 'EpiSign international: Health system impact assessment and expanding clinical utilization of epi/genomic testing in rare diseases and beyond. Read here for more details, genomecanada.ca/project/episig…

So this starts on Thursday, a rare disease poem in old gaelic script & the ugly Poolbeg chimneys that Dubliners love! Great job Nicholas & Marianne ERN-ITHACA

Very sobering analysis of this study. Please read. Genome profiling at birth – is this the future we want for our children? • PET progress.org.uk/genome-profili…

A well deserved recognition!! I am so proud to work together with Yves Moreau in the PEC European Society of Human Genetics (ESHG) An inspiration for the youngers and the less youngers eshg_young Sofia Douzgou Houge Heidi Ledford Alexandre Reymond Joris Veltman Alisdair McNeill Barbara Prainsack (@[email protected]) fiona ulph ⭐ Rhys Dore ⭐

Tilbyr ny genetisk utredning til personer med utviklingshemning uten kjent årsak frambu.no/aktualiteter/t… via Frambu kompetansesenter for sjeldne diagnoser

#ashg23 , Roger E Stevenson, South Carolina’s Greenwood Genetic Center: optical genome mapping offers a 10% diagnostic and 24% candidate diagnostic result in cases of Neural Tube Defects 😮😮

Looking forward to the science and innovation at #ASHG23 ! Come and listen to my talk about our DEGCAGS #syndrome project ERN-ITHACA Sjeldne diagnoser
I will be presenting on Sat, Nov 04,
Conv Ctr/Room 146B/Level 1,
11:30am - 11:45am (Eastern) (Presenter 007)

With pure wonder we watch the progress of medical genetics in Georgia over just the last 4 years: Tika Tkemaladze presenting infographics for > 40 genetic syndromes in Georgian language #UDNI2023

Trusting extended genetic analyses of our patients to the best: looking forward to further collaborations with the Siddharth Banka research group and the Stefan Barakat lab. Thank you Udninternational Tika Tkemaladze Willefonden for hosting us in Tbilisi #UDNI2023 💫