@cpschaaf & his team developed two new mouse models of the Bosch-Boonstra-Schaad optic atrophy syndrome, carrying patient-specific Nr2f1 variants and capturing key aspects of the #BBSOAS, offering insights into genotype-phenotype links.
#raredisease
https://t.co/dOM4EM9ERw
Following the successful establishment of the seminar series with almost 500 participants from German-speaking countries, we are pleased to announce the international launch of the English edition of our course series: Genetic Half-Hour – Comprehensive Course in Clinical Genetics
I decided to put my activity on X “on hold” for the time being. Please follow me on Bluesky (@cpschaaf.bsky.social) or LinkedIn (https://t.co/mrunEu80aa) instead. See you there! 👋
The EACD / IAACD 2025 Registration for the main congress and the pre-congress sessions is now open! Benefit from the Early Bird rate until January 31st, 2025, and secure your spot in one of the pre-congress symposia.
For more information, please visit: https://t.co/SiAXIJ8OJH
#SchaafYang syndrome and its causal gene illustrates mechanistic understanding of complex neurogenetic disorders and how targeted therapies can be developed @cpschaaf
https://t.co/w13ewlkdrO
Die „genetische halbe Stunde“ 🧬 geht in die zweite Halbzeit ⚽️. Jetzt registrieren für das neue Jahr. Themen in 2025: Erkrankungen von Muskel, zentralem Nervensystem, Skelett, Haut, Nieren und Stoffwechsel. Wir freuen uns auf Euch! https://t.co/PdeHKANqFF
https://t.co/wUscgTjY9A
I was interviewed by @SWRAktuellBW about the recent publication by @edwin_kirk in the @NEJM on couple-based genetic carrier screening.
- Exceptional communication and organizational skills, with the ability to manage multiple tasks and priorities effectively.
- Self-motivated and capable of working independently while maintaining high standards of scientific rigor.