🔥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

Here is the link for #TopDownloadedArticle for ASXL3-related disorder and largest natural history on this common disorder to date. Further work on an even bigger cohort and more follow up data ongoing! onlinelibrary.wiley.com/doi/full/10.10… @ShefUni_OncMet Sheffield Children's ARRE Foundation

The *first* global #census for #STXBP1 is published! 903 patients from 45 countries! We know there are more STX'ers out there. Check out the news article and be counted! stxbp1disorders.org/news/stxbp1-ce… #STXBP1GlobalConnect Asc. Sindrome STXBP1

Information on the albuterol shortage, for patients whose disease burden includes asthma. lung.org/blog/albuterol…

A new publication from Dr. Anne Anderson’s lab at Baylor College of Medicine evaluates EEG as a tool, or biomarker, to objectively measure therapeutic efficacy in Angelman syndrome. Read more about the publication's findings: buff.ly/3KaM6r6

🏛️ This work falls within FAST’s Pillar 4 - Accelerating and Preparing for Clinical Trials in our Roadmap to a Cure 2.0, and is particularly exciting for our community right now, given the multiple ongoing and emerging clinical trials.

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Great news, & great exposure for Angelman.

You'll know by now that we've officially launched #60SecondsofRARE. To get involved, email rpender@rarerevolutionmagazine, and you'll receive four questions, including video guidelines Then, film yourself answering the four questions, and that's it!

#ShineYourSearchlight✨ Do you live in the USA? Make sure your genetic variant is part of the @SimonsSearchlight biorepository! Your blood sample can help in creating future therapies and treatments. Contact [email protected] to learn more. #OCNDS #CSNK2A1

Want to learn how to get involved on a state level? Join EveryLife Foundation for their Apr. 12 webinar on Building Relationships with State Decision Makers. Learn best practices and hear directly from advocates who are taking action in their states. go.globalgenes.org/everylifeorg

NORD's #LivingRareForum is just one month away on Saturday, May 6, 2023! Join hundreds of patients, families, & #RareDisease community members in Washington, DC for a day full of education, inspiration, & celebration of NORD's 40th anniversary. Register: bit.ly/3Lu3oOZ

There are four active clinical trials for Angelman syndrome! New site locations have recently been added to the ongoing studies, and additionally, a new observational study was just announced. 🔬 Check out more info about these clinical trials: buff.ly/3nCm8VB