v-ATPase Alliance

Discover the latest updates on www.vatpasealliance.org and support our mission. Visit our website to explore new information and resources about this rare disease. We've recently updated our site to provide the most current knowledge and support for families affected by v-ATPase disorders. https://lnkd.in/ePFfSYGh While you're there, share our mission with others, see if there is any update that is new for you or if there is something you find interesting and are willing to share with your own community. Every action, no matter how small, makes a difference. https://lnkd.in/d7CRgzqW #vATPase #raredisease #support #awareness #apparel #community

In the vast world of rare diseases, every case matters. For ATP6VOC, a particularly rare condition, finding just 27 cases could be a game-changer. We found 8, help this family quest of finding the other 19! Help make this 27 dots colorful https://lnkd.in/d9tMz-Q4

#FridayMotivation

Ricardo Morcos, M.D. from the Instituto de Neurociencias Vithas Madrid took the International League Against Epilepsy stage again to unveil the latest findings on the #ATP6V0C epilepsy phenotype, a result of collaboration with many international colleagues and the v-ATPase Alliance, shedding light on genotype-phenotype associations, prognosis, and more. Stay tuned! 🚨 Collaboration is key! 🚨 #EEC2024 #Epilepsy #EpilepsyGenetics Vithas #RareDisease #Research #Science #Collaboration

Even though the school year is already underway, it's never too late to promote kindness and inclusivity. Let's make sure all students feel welcomed and accepted. Talk to your kids today about the importance of being kind to their classmates, especially those with special needs. A simple "hello" can go a long way in building friendships. Remember: Children with special needs may have different abilities and social skills, but everyone deserves to feel valued and accepted. Need some inspiration? Watch "Ian," an award-winning animated short film about kindness and inclusion. It's a great way to start a conversation with your kids and it is available for free on youtube: https://lnkd.in/dHgGRM53 Let's create a more inclusive and compassionate school environment for all. 🧡 Inclusion starts when we acknowledge each other, our strengths and similarities, but also when we accept our differences and embrace them. .... and it all starts with a Hello 👋 Have a Wonderful School Year! #vATPase #vATPaseAlliance #raredisease #inclusion #specialneeds #backtoschool #kindness

We are honored to welcome Dr. Kasia Goljanek-Whysall to our Scientifc Advisory Board. Dr. Whysall is a renowned expert in non-coding RNAs and muscle wasting, with a distinguished academic career at the University of Galway. Her research has significantly contributed to our understanding of the biology of aging and neuromuscular conditions. As a leader in the field, Dr. Whysall has secured prestigious awards, published extensively, and served on influential editorial boards. Dr. Whysall brings a unique perspective to our scientific advisory board. As the mother of Niamh, a young girl living with a rare v-ATPase condition, she has a deep personal connection to the research. Since Niamh’s diagnosis, Dr. Whysall has dedicated her career to understanding the biology of v-ATPase-related diseases and advocating for individuals affected by rare conditions. Her firsthand experience and insights into the challenges faced by patients and their families will be invaluable in guiding our research efforts. Thank you for joining us, Katarzyna Goljanek-Whysall! #vatpase #ultrararedisease #scientificadvisoryboard #rarediseaseresearch

We are excited to welcome Dr. Magdalene Moran to our Scientific Advisory Board. As a leading expert in drug development for lysosomal targets and membrane proteins, Dr. Moran brings a wealth of knowledge and insight that will be crucial as we advance therapeutic development for v-ATPase-related conditions. Her experience spans more than 20 years in the field, leading drug discovery efforts and successfully advancing several programs in the path to clinical testing. Dr. Moran’s track record speaks for itself—most recently as President and Chief Scientific Officer of Caraway Therapeutics, where she guided the company’s growth and led groundbreaking work on challenging ion channel targets, culminating in its acquisition by Merck. Now, as CEO of Topo Therapeutics, her leadership and expertise continue to impact the field. We are honored to have such a passionate and visionary investigator join our SAB, and we look forward to her invaluable guidance in our mission to find cures for v-ATPase disorders. Welcome, Magdalene Moran! #vatpase #ultrararedisease #scientificadvisoryboard #rarediseaseresearch

We are thrilled to introduce Dr. Ángel Aledo-Serrano as a member of our Scientific Advisory Board! From the very beginning, Dr. Aledo-Serrano has been a constant source of support and encouragement, pushing us to move forward with our mission at the v-ATPase Alliance. As a neurologist and epileptologist with a deep commitment to neurogenetic disorders, Dr. Aledo-Serrano was part of the pioneering team that first described the ATP6V0C-related developmental and epileptic encephalopathy, and he has always seen our organization as a valuable collaborator for the field and his follow-up work. Dr. Aledo-Serrano’s expertise, combined with his compassionate approach, makes him an invaluable asset not only to our scientific community but also to the families we serve. His dedication to addressing unmet needs in neurodevelopmental disorders aligns perfectly with our mission, and we are honored to have him on our SAB. Welcome, Angel Aledo-Serrano! #vatpase #ultrararedisease #scientificadvisoryboard #rarediseaseresearch

Attending #WeekinRare in Kansas City? Be sure to connect with our own Ana Rita Moreira #RARESummit Global Genes

Very exciting news for the Rare Disease community!