Alström Syndrome
Alström syndrome is a very rare but serious genetic disease that shows how one malfunctioning gene can affect the function of many systems in the body. Patients display extreme light sensitivity and may have serious heart problems as infants. As Alström syndrome progresses, the children become obese and face blindness, hearing impairment, type 2 diabetes, heart failure and other serious complications. There is no cure.
It was only recently, in 2002, that researchers at The Jackson Laboratory and a group from the University of Southampton in England were able to find the gene that creates such havoc, named ALMS1. Not previously identified or characterized, ALMS1 is now being studied at the Laboratory and at other locations around the world. Learning more about what the gene does and how it affects various parts of the body will provide knowledge about our basic biology as well as new hope for Alström syndrome patients and their families.
Alström syndrome research at The Jackson Laboratory
Jürgen Naggert and Patsy Nishina collaborate to discover the mechanisms through which the ALMS1 gene works. And, in the case of Alström syndrome, why there are such serious consequences when it doesn’t work. It turns out that mice show much the same effects as humans. Naggert and Nishina have developed an Alström syndrome mouse strain that allows them to study the mysterious workings of the disease and, hopefully, find targets for therapies.
