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v-ATPase Alliance @vatpasealliance.org · 07/08/2025

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-/

mailchi.mp

Helping v-ATPase families. Get to know and support them. Visit www.vatpasealliance.org

Get involved!

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v-ATPase Alliance @vatpasealliance.org · 30/07/2025

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 🤍

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v-ATPase Alliance @vatpasealliance.org · 29/07/2025

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!

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v-ATPase Alliance @vatpasealliance.org · 29/07/2025

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.

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v-ATPase Alliance @vatpasealliance.org · 29/07/2025

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.

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v-ATPase Alliance @vatpasealliance.org · 29/07/2025

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.

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v-ATPase Alliance @vatpasealliance.org · 29/07/2025

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!

donorbox.org

20 for 20 | v-ATPase Alliance (Powered by Donorbox)

Every step forward in the '20 for 20' Campaign brings us closer to breakthroughs for v-ATPase-related disorders. Our goal is to collect 20 vital patient biosamples, each representing a crucial piece o...

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v-ATPase Alliance @vatpasealliance.org · 29/07/2025

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...

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v-ATPase Alliance @vatpasealliance.org · 24/07/2025

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

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v-ATPase Alliance @vatpasealliance.org · 23/07/2025

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

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v-ATPase Alliance @vatpasealliance.org · 13/06/2025

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

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v-ATPase Alliance @vatpasealliance.org · 06/06/2025

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

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v-ATPase Alliance @vatpasealliance.org · 06/06/2025

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

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v-ATPase Alliance @vatpasealliance.org · 03/06/2025

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...

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Reposted by v-ATPase Alliance

rareepilepsy.bsky.social @rareepilepsy.bsky.social · 21/05/2025

@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...

flipsnack.com

Foundation Quarterly Spring 2025

Flipsnack is a digital catalog maker that makes it easy to create, publish and share html5 flipbooks. Upload a PDF or design from scratch flyers, magazines, books and more.

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v-ATPase Alliance @vatpasealliance.org · 16/04/2025

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

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v-ATPase Alliance @vatpasealliance.org · 14/04/2025

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

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v-ATPase Alliance @vatpasealliance.org · 14/04/2025

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

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v-ATPase Alliance @vatpasealliance.org · 14/04/2025

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!

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Reposted by v-ATPase Alliance

rareepilepsy.bsky.social @rareepilepsy.bsky.social · 28/02/2025

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

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v-ATPase Alliance @vatpasealliance.org · 27/02/2025

⚠️ 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

everylifefoundation.org

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v-ATPase Alliance @vatpasealliance.org · 26/02/2025

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.

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v-ATPase Alliance @vatpasealliance.org · 24/02/2025

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.

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v-ATPase Alliance @vatpasealliance.org · 06/02/2025

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...

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v-ATPase Alliance @vatpasealliance.org · 05/02/2025

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...

biorxiv.org

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v-ATPase Alliance @vatpasealliance.org · 04/02/2025

Punxsutawney Phil predicts six more weeks of winter ☃️🧣🧤 We’ve got you covered! With 2 NEW hoodie options to Care About RARE! Orders close in 3 days: Friday, February 7th! www.customink.com/fundraising/... #GroundhogDay #RareDiseaseAwareness #RareDiseaseDay

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v-ATPase Alliance @vatpasealliance.org · 01/02/2025

Spinning like crazy 😝 Wow! 😀

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Reposted by v-ATPase Alliance

John Rubinstein @johnrubinstein.bsky.social · 07/01/2025

Thank you, David Goodsell, for 300 editions of "Molecule of the Month" @rcsbpdb.bsky.social !! March 2018 was a great month for our lab when David highlighted our V-ATPase, ATP synthase, and V/A-ATPase structures pdb101.rcsb.org/motm/219

pdb101.rcsb.org

PDB101: Molecule of the Month: Vacuolar ATPase

Two linked molecular motors are used to pump protons across membranes.

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v-ATPase Alliance @vatpasealliance.org · 01/02/2025

This is a great and much-needed initiative. We would love to know how many v-ATPase cases have been identified in that collection so we can have a more accurate count of our patients. #harmoniserarediseasedata

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v-ATPase Alliance @vatpasealliance.org · 01/02/2025

It’s February! 🗓️ You can kick off Rare Disease Day month by framing your profile picture with this custom badge showing your support for the v-ATPase Alliance. Help us raise awareness for rare diseases with this one simple action! ✅ Join Us!! www.canva.com/design/DAGdY...

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v-ATPase Alliance @vatpasealliance.org · 31/01/2025

Show your stripes & support v-ATPase research! 🦓 Shirts are available for purchase (proceeds benefit research). Rocking last year's shirt? Donate to v-ATPase Alliance while you #WearYourStripes on Feb 28th! Every bit helps advance research & find treatments. #RareDiseaseDay #CareAboutRare

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v-ATPase Alliance @vatpasealliance.org · 31/01/2025

Mark your calendars! 🗓️📣 Rare Disease Awareness Month starts tomorrow, culminating in #RareDiseaseDay on Feb 28th! Join us & 300 million others impacted by rare diseases. We'll share ways to spread awareness, show support, & take action for v-ATPase research & treatments. #CareAboutRare ❤️💛💚💙🔬🤝

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v-ATPase Alliance @vatpasealliance.org · 31/01/2025

This are the genes that have a direct link with human diseases ATP6V0A1 ATP6V0A2 ATP6V0A3 ATP6V0A4 ATP6V0C ATP6V0D2 ATP6V1A ATP6V1B1 ATP6V1B2 ATP6V1C2 ATP6V1E1 ATP6V1H Know more here: vatpasealliance.org/human-diseases

vatpasealliance.org

v-ATPase Alliance

Welcome to v-ATPase Alliance!

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v-ATPase Alliance @vatpasealliance.org · 31/01/2025

We are happy that you are here and thankful for any effort you make to raise awareness for genetic disorders related with v-ATPase. ⁠ #RareDisease #Pediatric #RareDiseaseAwareness

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v-ATPase Alliance @vatpasealliance.org · 31/01/2025

Hello, everyone! We are @vatpasealliance.org a nonprofit to help families affected by v-ATPase genetic disorders #RareDisease

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