Kicking of the Erasmus MC Rare Disease Symposium straight after #eshg2024 ! Erasmus MC Erasmus University #Rotterdam #raredisease #genes #genetics

Team #Rotterdam unfortunately slightly delayed by train but now there i understand, Will join tonight and looking forward to this exciting event!

Undiagnosed disease #Hackathon now really getting started! With 122 participants from 28 countries! #raredisease #undiagnosed Wilhelm Foundation Antony mburu

New international collaborative work (incl. our group) delineating the clinical spectrum of TOKAS: jmg.bmj.com/content/early/… #Xchromosome #RLIM #RNF12 #genetics #morbidgenes Erasmus MC ERN-ITHACA

amazing to be part of this community!

Congratulations Bart van der Sanden , very well done! Was a pleasure to be part of the opposition today! Thanks Lisenka Vissers and Alexander Hoischen for the invitation to Nijmegen!

New international collaborative work incl our group on EPG5 #neurodevelopmental #disorder #morbidgene @erasmusg

Delighted to announce the European Society of Human Genetics (ESHG) and Manchester Rare Conditions Centre Syndromology and Dysmophology Course in Manchester - 22nd & 24th October, Deadline for interest 12th July, see mrcc.org.uk/education-enga……

Vandaag vindt de dysmo-dag Zinnige Zorg plaats. In dit interessante programma komt casuistiek aan bod in relatie tot overwegingen binnen zinnige zorg, mede georganiseerd door de A&O zinnige zorg commissie van de VKGN. @erfocentrum

thanks for including us in this wonderful collaboration!

Recently we launched our rapid long read whole genome sequencing project at Erasmus MC Genetica Erasmus MC to enable fast diagnoses for critical ill children at the intensive care #genetics #raredisease #ONT #WGS #diagnostics

Schot, et al from Stefan Barakat lab nailed it. In GMDB, there are currently +18 cases from Nicky Whiffin, et al. #GestaltMatcher has a PPV for #RNU4_2 >90% (Hannah Klinkhammer ). What are you waiting for? onlinelibrary.wiley.com/doi/10.1111/cg….

PhD student interested in improving diagnostics for patient with rare genetic disorders academictransfer.com/344456/ Erasmus MC

👋We are hiring a PhD student for rare disease diagnostics project #genetics #RareDisease #WGS #ONT #AI #job #PhDposition #Rotterdam Erasmus MC WerkenbijErasmusMC : PhD student interested in improving diagnostics for patient with rare genetic disorders werkenbijerasmusmc.nl/en/vacancy/101…

“ReNU syndrome” (pronounced ‘renew’) A name chosen by family groups for the syndrome associated with variants in RNU4-2. It symbolises the renewed hope for a brighter future for families on receiving this diagnosis. Disease / syndrome naming is hard : a short 🧵

Intriguing role of one of our labs favorite genes, UGP2, determining cell differentiation speed. We previously found a founder mutation to cause severe epileptic encephalopathy & microcephaly, the latter possibly explained by differentiation difference #genetics #morbidgene

We wrote a new #GeneReviews chapter on the YIF1B neurodevelopmental disorder alias KABAMAS that we described a few years ago. Hopefully helpful if you encounter a patient. Eva Medico #morbidgene #genetics Erasmus MC #NDD #epilepsy ncbi.nlm.nih.gov/books/NBK60699…

Fascinating overview of the history that lead to the identification of the fragile X syndrome gene in 1991 by Annemieke Verkeerk, Ben Oostra and others Erasmus MC Genetica Erasmus MC !