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UW Medicine Huddle: Mapping Genetic Variants and Their Ties to Disease

By February 20, 2025No Comments

Over the past 30 years, genetic sequencing has revealed the human genome is 99.9% identical from one person to the next. The problem is you could fill a book with everything we don’t know about the other 0.1%. And so, page by page, a team of UW researchers is helping to do just that.

That book is called the Atlas of Variant Effects, and researchers say it will eventually include maps for all known variations of human DNA, hundreds of millions of them. These tiny differences are what make each of us unique. Some variants, however, are also associated with disease. Knowing how different variants affect people — and which ones have no effect — can accelerate diagnoses and guide the design of treatments.

An international team led by UW Medicine faculty at the Brotman Baty Institute expects to map 1,000 genes by 2030, representing a massive leap forward from current understanding.