The v-ATPase Voice - the official v-ATPase Alliance Newsletter - is Out, check the latest content and share with your contacts. Help us spread awareness. mailchi.mp/8ce5f1be5f59...
Not subscribed?
Subscribe here: eepurl.com/iHW3S-/
On this #WarriorWednesday we pause to honor four extraordinary children whose lives continue to guide and inspire our mission: Avril, Hawke, Remington and Izabella.
🕊️ Forever warriors. Forever remembered. Forever a part of the Alliance 🤍
Your support is crucial. Allowing us to collect 20 biosamples directly accelerates our global understanding of v-ATPase conditions. Please consider making a donation today donorbox.org/20-for-20-78...
Here's why 20 is so vital 4/4
- Guarantee v-ATPase participation in a neurodevelopmental disorders Proteomics Study 🧬: This study examines the proteins found in the plasma to determine if they differ between individuals, if so, these protein changes could serve as biomarkers for v-ATPase disorders!
Here's why 20 is so vital 3/4
- Drug Discovery Potential: More samples provide better targets for drug discovery and allow for more rigorous testing of potential therapies in laboratory settings.
Here's why 20 is so vital 2/4
- Diverse Representation: A larger sample size allows us to capture the full spectrum of the disease across different ages, genetic backgrounds, and clinical presentations, providing a more complete picture.
Here's why 20 is so vital 1/4
- Statistical Significance: With 20 biosamples, researchers can perform more reliable statistical analyses, identify commonalities, and differentiate between typical variations and disease-specific changes.
When it comes to rare diseases like v-ATPase conditions, every single patient sample is a treasure. However, to truly advance scientific understanding and find patterns, more samples mean more robust data. In fact, if we can get more than 20 biosamples, we will!
We are halfway there, but need your help!
We're running the #20for20 Campaign, aiming for 20 biosample collections. You might wonder: why aren't 10 enough? Why is 20 the golden number? Let us shed some light on that!
Donate: donorbox.org/20-for-20-78...
23 #vATPase #Facts!
Today is v-ATpase Awareness Day!
v-ATPase it matters! Kids like Lana matter!
Thank you for helping raising Awareness with your own voice in English and Russian. What a mighty warrior!
Comment, Share and Care.
Get involved: vatpasealliance.org/get-involved
Today is v-ATPase Awareness Day! We're highlighting the 23 genes of this vital pump. Its malfunction causes severe multi-system disorders & DEEs in kids, but studying it also offers key insights into fighting cancer, neurodegeneration, & promoting healthy aging.
v-ATPase: it matters! #AwarenessDay
New Series coming up later this month:
"Roadmap to a Cure: Navigating the Path for v-ATPase-related conditions" and many other rare genetic disorders!
#vATPaseAlliance #RoadmapToACure #RareDiseaseResearch #HopeForACure #BreakthroughsAhead #PatientAdvocacy
There's More to the Story is an Educational Program from v-ATPase Alliance a 501(C)(3) Nonprofit commited to bring positive change to those living with ultra rare diseases.
Learn more and support our vision at www.vatpasealliance.org
Community Update!
We are thrilled to extend a warm welcome to our first known v-ATPase family from Serbia!
Help us reach more families and potential partners by sharing this post
#vATPaseAlliance #RareDisease #CommunityStrong #Serbia #GlobalReach #WelcomeHome #CareAboutRare
Endosome map reveals v-ATPase IS the ultimate connector!
The biological pathways or functions these proteins influence may ultimately have a more significant impact!
Article here: www.nature.com/articles/s41...
@Ana Rita Moreira of the REN member @vatpasealliance.org shared her moving advocacy story, "Don't Let the Light Go Out," with the @Epilepsy Foundation's Foundation Quarterly Spring 2025. The energy and determination of their community is contagious.
www.flipsnack.com/epilepsyfoun...
If you're working in this space, connect with us! #vATPase #GetToKnowMore #DEE #Epilepsy #Neurology
Understanding the genetic complexity of v-ATPase DEE is crucial for diagnosis and treatment. See the gene comparison table: ATP6V0A1, ATP6V1A, ATP6V0C. #vATPase #Neurology #RareDisease #Diagnosis #GetToKnowMore
Mutations in v-ATPase genes can affect various organs and systems, including the brain (neurological disorders), kidneys (renal tubular acidosis), bones (osteopetrosis), immune system (immune deficiencies) and others. #GetToKnowMore
v-ATPase is a multi-subunit enzyme complex, a proton pump, that is expressed in various cellular membranes throughout the body, including lysosomes, endosomes, and plasma membranes #GetToKnowMore
Disease detectives, assemble! 🔍
The new 💚 "Get to know more about v-ATPase" campaign aims to drive awareness of v-ATPase-related diseases and emphasize that gene testing is essential for accurate diagnosis and effective treatment of v-ATPase-related disorders. Stay tuned!
On this Rare Disease Day we share the story of Charlotte's epilepsy journey with v-ATPase.
To learn more about Charlotte’s diagnosis, please visit www.vatpasealliance.org @vatpasealliance.org
Let's all come together on this #RareDiseaseDay
us06web.zoom.us/meeting/regi...
⚠️ SIGN TODAY!!! Rare Disease community petition for steady and robust federal agency leadership, Federal Biomedical Research Funding, and Public Health Agency Support! It will be sent to members of Congress tomorrow #RareDiseaseDay!
everylifefoundation.org/national-rar...
@everylifeorg.bsky.social
Tomorrow, February 28th, we are hosting a Global Rare Disease Day on Zoom.
Sign up here, don't miss the fun! us06web.zoom.us/meeting/regi...
Tomorrow, Feb 27th, we will be at the #Texas Children's Hospital from 9am-4pm CST
Stop by, say hello, and help make a difference! 🙌
#RareDiseaseDay2025 event with #NORD / Center of Excellence at Baylor College of Medicine (BCM) / Baylor St. Luke’s Medical Center (BSLMC) in the Texas Medical Center.
Have you ever found yourself staring at a Google search bar, the weight of the world pressing down on your shoulders, desperately trying to decipher how to find the right support for your child?
Try www.librarey.com A collaborative resource for rare diseases. Find support and share knowledge.
The RARE Advocacy Exchange kicks off on March 10th at 1 PM EST. A year long virtual patient summit!
🌟 We've already signed up; will you join us?
📌 Register here: globalgenes.org/rare-advocac...
Interesting paper that provides a good overview of the key factors, beyond cost, that funders should consider when developing their Programs and Policies. #OpenScience
www.biorxiv.org/content/10.1...
