Help us find a cure!
With your help, we can do more. You or your child’s genetic information and symptoms could be the key to unlock new discoveries and help accelerate the development of novel therapies. It only takes a few minutes, and we will help you every step of the way.
Through our extensive research, we found there are many more patients being impacted by dysfunctional Proton Pump activity which results in a broad range of phenotypes and includes disorders like Lysosomal Storage and Golgi Homeostasis. After about a year of research, by the end of 2022, we are proud to say we have started the Luka Shai Foundation where we hope to leverage ATP6AP2, and other V-ATPase disorders linked to improper organellular acidification to treat rare diseases. Our goal is not just to solve the immediate mutation but to help other patients impacted by the loss of function caused by this mutation and many other similar mutations.
Why we need your help!
The main roadblock for rare disease families is:
That rare diseases, in general, have relatively less access to funding.
How can we overcome this?
We need to identify and characterize patient population. THERE IS POWER IN GENETIC DATA & IN NUMBERS.
Establishing common phenotypes for ATP6AP2, OR ANY adjacent mutations could result in a much broader target disease and therapeutic population, and FASTER.