Researchers at the National Cancer Institute (NCI), part of the National Institutes of Health, have linked specific genetic mutations to defects in cells that lead to a rare disease known as Birt-Hogg-Dub? syndrome. Building on previous clinical and genetic work spanning several years, the researchers discovered a novel protein that binds to the normal version, but not the mutant version, of the protein implicated in Birt-Hogg-Dub? syndrome. This new protein, which they named folliculin interacting protein 1 (or FNIP1), links Birt-Hogg-Dub? syndrome to disruptions in critical energy- and nutrient-sensing cellular pathways. The findings appear online October 2, 2006, in The Proceedings of the National Academy of Sciences. The research was led by Masaya Baba, M.D., Ph.D., and a team of scientists from NCI’s Center for Cancer Research*.