v-ATPase Alliance

v-ATPase is a protein complex essential for cellular function, particularly in maintaining the pH balance of several cellular?components. Disruptions in v-ATPase function due to genetic mutations can lead to various disorders affecting multiple organs. Alterations in several of the v-ATPase genes (including?ATP6V0C, ATP6V0A1, and ATP6V1A) primarily result in neurological conditions often referred to as?developmental and epileptic encephalopathies?(DEEs) To find therapies it is crucial to understand the Genotype/Phenotype relationship, meaning how the specific variants (mutations) in the genes relate to the?observable characteristics of the disorder. Common phenotypes include: ?? Manifests early in infancy or childhood ?? Neurodevelopmental Disorder ? Developmental Delays ?? Significant Cognitive Impairments ? Recurrent Seizures ?? Microcephaly ?? Loss of Dental Enamel ?? Autism Spectrum Disorder #FactFriday #CareAboutRare #GeneticResearch #UnderstandingGenetics #RareDiseaseGenetics #RareDiseaseAwareness #EpilepsyAwareness #vATPase #Phenotype #ATP6V1A #ATP6V0A1 #ATP6V0C

This graph represents hope.?? From the "Dark Ages" to the Genomic Era: it shows the explosion of gene discoveries in epilepsy research. ?? It's amazing to see how much we've learned and how it's shaping the future of diagnosis and treatment. For v-ATPase-related conditions ?? that are DEEs (Developmental and epileptic encephalopathy) medical findings are really recent: ATP6V1A (2018), ATP6V0A1 (2021), and ATP6V0c (2023). Let's keep the momentum going! ?? Support research and help us find answers for those affected. ?? Children's Hospital of Philadelphia Ingo Helbig #IngoHelbig #FactFriday #CareAboutRare #GeneticResearch #UnderstandingGenetics #RareDiseaseGenetics #RareDiseaseAwareness #EpilepsyAwareness #vATPase #ATP6V1A #ATP6V0A1 #ATP6V0c #GenomicEra #DEEs

On February 28th, Rare Disease Day, we were honored to be part of the PNRI Rare Disease Day 2025 Family Foundations! ??? Rare disease family foundations are a powerful force in advancing research ??, funding early-stage discoveries ??, connecting experts ??, advocating for change ??, and supporting families ??. Visit the link below and check the slideshow that highlights 31 rare disease family foundations represented at PNRI’s Rare Disease Day 2025 scientific symposium—organizations that work tirelessly to: ?? Fund early-stage research that may not receive government or industry investment ?? Connect researchers, clinicians, and industry partners to accelerate treatment development ??? Advocate for policies that prioritize rare disease research and patient support ???? Build strong support networks for families navigating complex diagnoses and limited treatment options Thank you Pacific Northwest Research Institute and Seattle Children's for having us and give us the chance to spread awareness for v-ATPase-related conditions. ?? Available here: https://lnkd.in/dbPScqZx #PNRI #PNRIRareDiseaseDay #FamilyFoundations #rarediseaseawareness #RDD2025 #Seattle

What an inspiring Rare Disease Awareness Month we had this February! ?? We’re overflowing with gratitude for the support, love, and awareness shared by our incredible community. Together, we’ve made a difference, but the journey doesn’t stop here. Let’s continue raising our voices - because for families affected by v-ATPase conditions, every day is Rare Disease Day. ???????????? #Grateful #RareDiseaseAwareness?#TogetherWeFight?#EveryDayCounts?#vatpase CURE Epilepsy National Organization for Rare Disorders Rare Epilepsy Network (REN) Citizen Health Global Genes Texas Children's Hospital SERaro.pt RD-Portugal

What an inspiring Rare Disease Awareness Month we had this February! ?? We’re overflowing with gratitude for the support, love, and awareness shared by our incredible community. Together, we’ve made a difference, but the journey doesn’t stop here. Let’s continue raising our voices - because for families affected by v-ATPase conditions, every day is Rare Disease Day. ???????????? #Grateful #RareDiseaseAwareness?#TogetherWeFight?#EveryDayCounts?#vatpase CURE Epilepsy National Organization for Rare Disorders Rare Epilepsy Network (REN) Citizen Health Global Genes Texas Children's Hospital SERaro.pt RD-Portugal

?? Office hours are back! Every 6th of every month, we will hold a recurring meeting to provide updates, share stories, offer an opportunity to ask and answer questions, connect with each other, and meet new members. Why the 6th? ?? All v-ATPase genes start with ATP6V-, so we decided to use the 6 as the unity symbol. On the 6th, we meet! ?? Let's take the time to check in with each other and move forward together, united! ?? ?? The first one is just around the corner: Thursday, March 6th. ?? ?? Starts at: 12 PM - Texas, Central time 1 PM - New York, Eastern Time 6 PM - London, GMT 7 PM - Central Europe Register here: https://lnkd.in/dzsxNqzN #CareAboutRare #vATPase #OfficeOurs #FamilyMeetings #United #StrongerTogether

What an incredible #RareDiseaseDay 2025! We aim to raise awareness for rare diseases, particularly on v-ATPase disorders, throughout the year. But today is special and all about celebrating rare and drive positive change for everyone impacted. Thank you to everyone who is participating today and hope you keep advocating for rare during the rest of the year. #careaboutrare #RareDiseases #RareDiseaseDay2025

Thanks to my friends at the vATPase Alliance for sending along this lovely shirt for Rare Disease Day! It's estimated that at least 300 million people suffer from a Rare Disease. As we take a moment to think about ourselves, our friends, and our family members suffering from a Rare Disease, let's figure out ways to support the community. That may be adding one more mutant line to an experiment, or raising money, or offering a little help to parents who are juggling too many things. We all need to Care About Rare to make a difference!

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This is amazing!!! We are so inspired today with all the people #ShowYourStripes and supporting Rare Diseases