Help us find a cure!
With your help, we can make a real difference. Your or your child’s genetic information and symptoms could be the missing piece that unlocks new discoveries and accelerates the development of life-changing therapies.
Joining is simple and takes just a few minutes—and we’ll guide you through every step.
Together, we can turn research into real hope for patients and families worldwide.
Through our extensive research, we’ve discovered that many more patients are affected by dysfunctional Proton Pump activity, leading to a wide range of symptoms and conditions. These include Lysosomal Storage Disorders, Golgi Homeostasis disorders, and other rare diseases caused by improper cellular acidification.
By the end of 2022, after a year of relentless research, we launched the Luka Shai Foundation—not only to find a treatment for ATP6AP2-related disorders but to create a path forward for other patients suffering from similar V-ATPase-related diseases.
Why is joining the Natural History Study so important?
Understanding how these mutations impact patients over time is critical to developing treatments. A natural history study collects valuable data on how a disease progresses, helping scientists and researchers identify patterns, treatment targets, and potential therapies.
More patients = more data = faster progress toward treatments.
If your child has an ATP6AP2 or V-ATPase-related disorder, participating in our study could directly pave the way for life-changing treatments—not just for your child, but for an entire community of rare disease patients.
Together, we can turn discovery into real solutions.
Why we need your help!
The Biggest Roadblock for Rare Disease Families:
Rare diseases receive significantly less funding than more common conditions, making research and treatment development painfully slow.
How Do We Overcome This?
We need to identify and characterize the patient population.
🔹 There is power in genetic data.
🔹 There is power in numbers.
By establishing shared phenotypes for ATP6AP2 and related mutations, we can expand the target disease population—making treatments more viable and accelerating therapeutic development faster than ever before.
Every patient counts. Every data point matters. Together, we can drive change.