Rare Diseases

Understanding what goes wrong in one rare disease

can unlock treatments for many more.
Berkeley is building that science.

Most rare diseases are genetic, chronic, and severe, and most patients wait years for a diagnosis and a lifetime for a treatment that never comes.

Berkeley is pursuing a paradigm shift: decode the shared biology underlying thousands of conditions, and the science that cures one could cure hundreds, or even thousands. Our researchers have identified something the pharmaceutical industry has largely missed: many rare diseases that appear unrelated share the same underlying biological mechanisms, particularly defects in immune regulation. Instead of tackling thousands of conditions one at a time, we are targeting the shared mechanisms that connect them. We have already identified common threads running through rare immune disorders, mitochondrial diseases, lysosomal storage diseases, and age-associated immune dysfunctions. The rare disease problem is more solvable than the world thinks. Berkeley is proving it.

What we're doing

Rare Disease Initiative

Finding common mechanisms behind uncommon diseases

Rare diseases look different on the surface, but often share the same broken machinery underneath. We are mapping the common mechanisms, particularly in mitochondrial and lysosomal function, that drive dozens of rare conditions, building a scientific foundation that makes one insight count for many diseases at once.

Many rare diseases stem from a loss of immune regulation. We are identifying which rare conditions are driven by immune dysfunction and developing approaches to restore that regulation, turning a therapeutic dead end into a tractable problem.

The pharmaceutical industry won't build this research program because no single rare disease justifies the investment. We are building it anyway, because we are a public university, we think differently, and the patients who need it deserve nothing less.