Our aim is to help families by providing practical advice, annual conferences, raising awareness of #NCBRS and possibly help to fund any future research studies
“Going Global” wasn't just a theme—it was reality! 🌍📷
Relive highlights from the #NCBRS Family Conference USA 2025: research updates and family connections.
Thanks to #CostelloMedical for bringing this video to life. 📷📷#NCBRSRare#RareDisease #NCBRSUSA25#SMARCA2
🚨May Bank Holiday Closure🚨
We will be closed on Monday, 25th May and will reopen on Tuesday, 26th May 2026.
If you need us, email [email protected] and we’ll reply when we return.
Wishing everyone a great bank holiday weekend 🧡💚💙 #NCBRS#NCBRSRare
We're seeking nominations for a £5K @BenefactGroup Award to support our work.
Nominate by Sunday 24 May at: https://t.co/cWmCjuepFe and it could hugely help us: https://t.co/cWmCjuepFe *Our details will be pre-filled*
Thank you 🧡💚💙 #NCBRS#NCBRSRare#MovementforGood
Amazing news! @NCBRSFoundation received £41.27 this week—placing us in the top 50% of causes on @easyuk.
Huge thanks to everyone supporting us. If you haven't joined, sign up on easyfundraising today & and we could win a £5K donation: https://t.co/U0ut89q61J
Thank you 🧡💚💙
We’re proud to share our new #NCBRS infographic.
With under 340 known cases worldwide, we unite families in 51 countries to advance research, support and advocacy.
Huge thanks to #CostelloMedical for collaborating on this vital resource for our community! 🌍🙏✨ #NCBRSRare
We’re still buzzing from the "GOING GLOBAL" #NCBRS Family Conference USA 2025!
Special thanks to Costello Medical. Their dedication made the event and has produced post-conference materials that we’ll share across our social channels and website. #NCBRSRare#NCBRSUSA25 🧡💚💙
We're proud to be featured in RARE Revolution insider™!
The @NCBRSFoundation calls for three priorities to better serve #NCBRS. Our CEO Lee Reavey outlines what's needed. Thanks to @RareRevolutionM — read the deep-dive: https://t.co/Zv84royADB #NCBRSRare#RareDisease 🧡💚💙
🐣 Easter Bank Holiday Notice 🐣
We’ll be out of the office from Friday, 3rd April, and we'll be back on Tuesday, 7th April.
We hope you have a wonderful, relaxing break filled with plenty of chocolate! 🍫✨
Happy Easter from the Team! 🧡💚💙
As our #RareDiseaseDay#Takeover with @RareRevolutionM comes to a close, our work does not. We want to say a massive thank you to Rare Rev for giving rare conditions like #NCBRS a platform to shine.
To our families: You are the heart of this foundation. To our supporters: You are the fuel.
Join our mission:
1. Website: https://t.co/3O4GWmzvrw
2. Support: Follow us on Facebook and Instagram to stay updated on our next Global Gathering and research initiatives.
3. Donate: Help us continue funding vital family support programs.
Together, we are making the world a smaller, friendlier place for everyone with NCBRS.
@ncbrsfoundation
#NCBRSRare #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙
In the world of ultra-rare diseases, knowledge isn’t just power—it’s peace of mind. For #RareDiseaseDay, we are highlighting our #NCBRS Information Guide, a vital resource designed to support families from the very first day of diagnosis.
With only approximately 330 confirmed cases worldwide, finding reliable information on Nicolaides-Baraitser Syndrome can be a challenge. Our guide bridges that gap by providing:
1. Clear details on mutations in the SMARCA2 gene and how they affect development.
2. Information on identifying traits, from distinctive facial features and prominent finger joints to the "happy" and social dispositions often seen in our community.
3. Practical guidance on navigating developmental delays and intellectual impairments.
4. Direct links to our private family groups where the real "experts"—our parents and caregivers—share their lived experiences.
Whether you are a newly diagnosed family, a therapist, or a medical professional, this guide is built to ensure no one has to navigate NCBRS in the dark.
View or download the guide here: https://t.co/I9LN4Qh2ej
@ncbrsfoundation
Learn more about us! https://t.co/3O4GWmzvrw #NCBRSRare #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙
While we join the global community today for #RareDiseaseDay, the @NCBRSFoundation is already counting down to our most important date: October 9th.
October 9th is our official #GlobalNCBRSAwarenessDay. It is the day we stand together to amplify the voices of those living with Nicolaides-Baraitser Syndrome. We wear Orange to spark conversations, break down barriers, and show our families they are seen.
Our Mission is to turn heads and open doors for education. Support our families with the advocacy they need and ensure #NCBRS is represented in the wider rare disease conversation.
Learn more about #GlobalNCBRSAwarenessDay here: https://t.co/kPRcsHZ34M
Stay tuned as we share more about us! https://t.co/3O4GWmzvrw #NCBRS #NCBRSRare #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙
Nicolaides Baraitser Syndrome (#NCBRS) is more than just a long name; it is a complex genetic condition caused by changes in the #SMARCA2 gene.
But what does that look like in real life?
1. The Genetic Blueprint: NCBRS is caused by de novo mutations (occurring spontaneously) in the SMARCA2 gene. This gene is a key player in neural development and gene expression, which is why it impacts many different systems in the body.
2. Distinctive Features: Many of our individuals share beautiful, "coarse" facial features—often described as having a wide mouth and a broad nasal bridge. Another hallmark trait is prominent finger and toe joints (distal phalanges), which often become more noticeable as our "rare stars" grow.
3. The Power of Communication: While many with NCBRS experience significant speech delays or remain non-verbal, their silence is never empty. Our community excels at communicating through expression, touch, and Assistive and Augmentative Communication (AAC) technology.
4. The "Happy" Disposition: One of the most heart-warming facts about NCBRS is the personality. Families frequently describe their loved ones as having incredibly sunny, social, and infectious personalities. They are often the bright light in every room.
5. Ultra-Rare Strength: With only approximately 330 confirmed cases worldwide, every single person is a vital piece of the research puzzle. Every milestone reached is a victory for our entire global community.
Stay tuned as we share more about us! https://t.co/3O4GWmzvrw #NCBRSRare #RareDiseaseDay #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙 @ncbrsfoundation
Welcome to our #takeover for #RareDiseaseDay! We are the @NCBRSFoundation, a global beacon for those navigating the complexities of Nicolaides-Baraitser Syndrome (#NCBRS).
NCBRS is more than just a diagnosis; it’s a journey that requires immense resilience. Our foundation was built by families, for families, ensuring that no one has to walk this path alone. Today, we’re joining the @RareRevolutionM community to share our story, amplify our voices, and show the world that while our condition is rare, our spirit is anything but. Our mission is to provide support, foster research, and—most importantly—bring hope to our families across every continent.
Stay tuned as we share more about us! https://t.co/3O4GWmzvrw #NCBRSRare #RareDiseaseDay2026 #RDD #RDD2026 🧡💚💙
Only a few days until #RareDiseaseDay2026! Join the 300+ million with #RareDiseases to raise awareness. Let's reach the public, healthcare professionals, and policymakers. Visit https://t.co/UXA6K18o9V to learn how to get involved. 🧡💚💙
#NCBRS#RDD2026@RareDiseaseDay
From 7 known cases to a global movement today. 🌎
Check out this blog @Coriell_Science featuring our story & the families who made history by donating samples to advance #NCBRS research 🧬🧡💚💙
Read more here: https://t.co/Ws82Ri21t8
#NCBRSRare#NCBRSUSA2025#CoriellInstitute