Rare Disease Research
Individually rare, collectively common. Thousands of rare conditions share one feature that makes them tractable: a clear genetic cause. Our rare disease research concentrates on monogenic conditions where genetics tell us precisely what a therapy needs to fix, and where gene therapy and other genetic medicines can address the cause rather than the symptoms.
Monogenic conditions and variant interpretation
Most rare diseases trace back to a single causal gene. We work on classifying variants of uncertain significance, separating loss of function from gain of function, and defining which mechanism a therapy actually has to correct.
Gene therapy and genetic medicines
Depending on the mechanism, the right answer may be gene replacement, gene silencing, exon skipping, or base editing. We compare these approaches against delivery constraints, durability, and immune response rather than treating them as interchangeable.
Biomarkers for very small populations
When a trial can only enroll a few dozen patients, endpoints matter more than usual. We develop molecular and functional biomarkers that can show biological effect early, before slow clinical endpoints would.
N-of-few trial design
Rare disease programs rarely support conventional randomized designs. We model natural history controls, crossover and basket designs, and adaptive approaches that stay statistically defensible at small scale.
Access, cost, and equity
A therapy that exists but cannot reach patients has not solved the problem. Our public health work looks at diagnostic delay, newborn screening, and the economics of one-time genetic treatments.
Why rare disease sits at the center of our work
Rare disease is where our other research areas converge. Causal genes are identified through genomics, candidate molecules come out of drug discovery, treatment choices are guided by personalized medicine, and options are weighed side by side in our drug comparisons by disease. Because patient numbers are small, computational work matters disproportionately, which is why artificial intelligence in drug refinement is part of every rare disease program we run.
Lessons learned here travel well. A mechanism worked out in a rare monogenic condition often clarifies a common one, which is how rare disease work feeds back into our research on neurology, oncology, and neurodegeneration.
Working with us
We collaborate with patient organizations, academic groups, and companies developing genetic medicines. If you are building a rare disease program and want research support on target validation, biomarkers, or trial design, we would like to hear about it.