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 coordinator@simonssearchlight.org to learn more. #OCNDS #CSNK2A1

Want to learn how to get involved on a state level? Join @EveryLifeOrg 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. https://t.co/Kt3JUAxKH3

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: https://t.co/Gm8VZ19GNS

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: https://t.co/ijevhDZxO7

https://t.co/dPioylsuS2

ASXL1 Awareness Day is a big day for a little populations-- so far, just about 150-200 individuals are identified as having ASXL1, or Bohring-Opitz Syndrome. It's one of a trio: ASXL1, ASXL2 and ASXL3. 1/

Great news, & great exposure for Angelman.

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🏛️ 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.

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: https://t.co/hlr5eDW8CF

About 150-200 people diagnosed with Bohring-Opitz & it is classified as "ultra rare."

Watch here to learn more about ASXL1 on Today is Bohring-Opitz Awareness Day. Watch here to learn more

Common features of ASXL1--Bohring-Opitz Syndrome--include developmental delay, intellectual disability, low muscle tone, feeding difficulties, constipation, seizures, sleep difficulties, and flexed joints.

Bohring-Opitz Syndrom is one of three ASXL conditions: ASXL1 ASXL2 and ASXL3 The features and abilities of people with Bohring-Opitz Syndrome varies greatly. We do not yet know why there is broad variation in features and abilities. 1/

The biorepository is going on a roadshow--more details to come.

https://t.co/VcMiVTxhQX, replay this webinar on our biobank & partnership with Syngap Research fund for SYNGAP1. Biorepositories--banks of samples--are a powerful tool for medical research.

Information on the albuterol shortage, for patients whose disease burden includes asthma.

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! https://t.co/UMOZ1NPRFh #STXBP1GlobalConnect @stxbp1

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! https://t.co/eta0HSJEAD @ShefUni_OncMet @SheffChildrens @arrefoundation