MJD Foundation

International MJD Conference April 2009

In April 2009, the MJD Foundation's Libby Massey (Morgan) (Director, Research and Community Services), and Prof Garth Nicholson (Board Medical Advisor) attended the international MJD workshop in the Azores. The aim of the conference was to bring together international researchers to share ideas and progress on research around all aspects of Machado Joseph Disease.

The research presented, ranged from genetic manipulation concepts through to the "switching on/switching off" mechanism of the Ataxin 3 protein. There is also a growing body of research around quality of life issues like sleep, muscular pain etc.

The conference was an excellent way for the MJD Foundation to become well known on the international arena, and great preparation for our Research Advisory Committee to coordinate with international research and care organisations.

This international MJD Conference took place 31 years after the publication by Coutinho et al of a large number of Azorean families and the suggestion that Machado-Joseph disease was a unique clinical entity, encompassing at least three main types of clinical presentation. This led first to the genetic mapping (1993) and then the cloning of the disease-causing gene (1994), allowing the beginning of genetic diagnosis and leading to the recognition that MJD was the most common form of autosomal dominant spinocerebellar ataxia worldwide.