MJD Foundation

DNA Haplotyping Research Project

 DNA Haplotyping research project in progress












On 20th Feb 2012, a Research Paper "Mutational Origin of Machado Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala" was published showing that the more aggressive 'Joseph' strain is found in Arnhem Land which is of Asian (rather than Portuguese) origin. =>Download

In August 2008, the MJD Foundation assisted in the Groote Eylandt leg of  a  DNA haplotyping study conducted by Professor Garth Nicholson. This was conducted with approval of the Human Research Ethics Committee of NT Department of Health & Community Services and Menzies School of Health Research and support from senior members of the communities involved.   The research involved analysis of the Groote families DNA for comparison with other MJD communities around the world.  The study was welcomed by curious Groote Eylandters who have a longstanding relationship with Professor Nicholson and were keen to understand the genesis of the disease and know more about their international family connections.  Professor Jorge Sequeiros who travelled with Professor Nicholson and spoke at the foundation launch  was also able to introduce Groote families to the international community of MJD with a collection of photographs and information about the many MJD communities he has associations with.


Professor Garth NicholsonProfessor Garth Nicholson

Professor Jorge SequeirosProfessor Jorge Sequeiros