Rare Disease

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000 people. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. Rare diseases are genetic in origin about 80% of the time, and can be debilitating or life-threatening for those affected. The limited number of patients and scarcity of knowledge and expertise makes researching rare diseases both challenging and expensive. That said, rare disease research is incredibly important, as it can serve as a valuable diagnostic model for more common diseases. The Althea Foundation is funding research into one of the most rare skin diseases, Hailey-Hailey, at UCSF. The Althea Foundation hopes that understanding Hailey-Hailey's genetic structure may lead to discoveries for other diseases.

Hailey-Hailey is a rare blistering skin disease that currently has no effective treatment. The UCSF laboratory was among the first to identify the underlying mutation in this disease, localized within the calcium transporting pump of the Golgi Apparatus, an intracellular organelle. Due to the limited number of patients affected by Hailey-Hailey, research into this disease will serve as an important diagnostic model while simultaneously leading to the development of new research paradigms for the analysis of diagnostic and treatment approaches.