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Happy to report our latest results on the role of SMCHD1 in facioscapulohumeral muscular dystrophy (FSHD). A very close and fun collaboration with Maayan Salton, this work was led by our amazing joint MD/PhD student Eden Engal 1/2 biorxiv.org/cgi/content/sh…

Our paper is out. An amazing work led by Aveksha sharma and Shani Zerbib Mistriel and a lot of help from great scientist friends. In short, splicing makes the world go round! Mercedes Bentata Mai Baker Gillian Kay @ Yotam Drier

Happy to share our new preprint! In this study, we report on 11 patients with a variable neurodevelopmental syndrome caused by homozygous LOF variants in WBP4, a spliceosome complex component. medrxiv.org/content/10.110… Maayan Salton Ophir Geminder

📢New AJHG 📰Biallelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome 🧑‍🤝‍🧑Eden Engal et al. cell.com/ajhg/fulltext/…

Our paper is now official out, see the new and improved version at: science.org/doi/10.1126/sc… Congratulation to the wonderful Eden Engal, Maayan Salton and team.

Happy to share our newest issue of JIMS- the Journal of Israeli Medical Students! lm.facebook.com/l.php?u=https%… This issue features 7 original research works, all written by medical students. Super proud of my great editorial team Stav Kislev Yotam Portnoy for making this possible!

Happy to take part in this year's RNA meeting in Edinburgh! Jr RNA Scientists The RNA Society

New study by @HUJIMed MD-Ph.D. student Eden Engal, under the guidance of Dr. Yotam Drier and Prof. Maayan Salton , reveals SMCHD1 protein's pivotal role in gene regulation, offering new avenues for targeted therapies against FSHD. For the full article 👇🏻 tinyurl.com/mpz4km37

בניגוד חד וחריף לאירועי המלחמה, ביום שישי האחרון התקיים הכנס המדעי הראשון של JIMS - Journal of Israeli Medical Students. מאות משתתפים, עשרות פוסטרים מדעיים, עשרות מכובדים שבאו לנאום ולהקשיב, אירוע חסר תקדים מסוגו של מדע, רפואה, יזמות, חדשנות, ציונות, וכן גם תקווה ואופטימיות. תודה רבה לכל המשתתפים, ובין