Overview

How can a single gene affect systems throughout the body?

That's a question researchers are asking about ALMS1. A mutation in ALMS1,discovered at The Jackson Laboratory, causes Alström syndrome, a profound illness marked by loss of sight and hearing, obesity and type 2 diabetes, liver and kidney function problems, and other afflictions as well as reduced lifespan.

The exact function of the ALMS1 protein remains unknown, but it's thought to contribute to movement of material within cells and the movements of cells themselves. At The Jackson Laboratory, Jürgen Naggert and Patsy Nishina developed an Alström syndrome mouse strain that allows them to study the mysterious workings of the disease and, hopefully, find targets for therapies.

Personal Connections

Nearly 20 years of genetic detective work has been invested by Jan Marshall and other Jackson Laboratory scientists in studying the genetic complexities of Alström Syndrome, which by all accounts is as devastating as it is rare.

"This is a horrible, horrible, horrible disease, and it's the rarest of the rare," says Marshall, a biologist and the Senior Professional Assistant on a research team that also includes Professor Jürgen Naggert and Senior Professional Assistant Gayle Collin.

"Alström Syndrome was first described in 1959, and we still don't know all there is to know about it," Marshall says. "I've been working at this since 1992, and it consumes every moment of my day. Our little band of researchers is obsessed and passionate about this work. We discovered the gene responsible, and now we're studying the mechanisms by which it does what it does."

Marshall's self-described "obsession" began with three years of tracing the genetic thread across 15 generations of a small cluster of patients in Nova Scotia to maintaining an Alström registry that now includes 670 patients spread among 48 countries. 

Marshall was instrumental in founding the Alström Syndrome International foundation. She also serves as the chair of the Foundation's Scientific Advisory Board, and she and her Jackson Laboratory colleagues now collaborate with Alström researches in several countries throughout the world.