Genetics of Parkinson’s Disease is Topic of New Research



Genetics of Parkinson’s Disease is Topic of New Research

The Parkinson’s Progression Markers Initiative  (PPMI) is an ongoing study looking for biomarkers in biological samples and imaging data from an international base of people with Parkinson’s disease who are part of a large national study.  Presently, over 800 individuals are involved with PPMI clinical trials at 32 sites.  In looking for biomarkers, such as a particular blood substances, or other physical processes that might predict the risk of PARKINSON’S DISEASE, researchers are hoping to find ways and means to both predict and treat the disease as early as possible and to target areas where drugs can be developed faster and more effectively.  Symptoms that have a demonstrated risk factor are loss of sense of smell and sleep behavior disorders are the subjects of other areas of research the PPMI. This study has already identified some blood markers such as the LRRK2 gene and the presence of alpha synuclein (SNCA gene) that are clearly connected to the disease, but the mechanism of operation is not yet clear.

Now they are further refining the search and are enrolling 250 subjects who are known to carry these genes and have symptoms of PARKINSON’S DISEASE and another 250 subjects who carry the genes but have no symptoms.  These subjects will be followed for at least 5 years.  At present, only about five or ten percent of all people with PARKINSON’S carry the genetic mutation.  However, knowledge learned from the genetics of these people will ultimately inform better understanding of the disease process. Of special interest are people of Eastern European descent who have relatives affected by PARKINSON’S DISEASE.

“Studying individuals with genetic mutations associated with PARKINSON’S can accelerate our research toward a PD biomarker and more effective treatments: said Stuart Factor, D.O., who is director of the Emory University Comprehensive Parkinson’s Disease Center and the director of the Emory Movement Disorders Center.  The large-scale extent of the PPMI research is already bringing scientific insights that will strengthen the efforts to find therapies that will modify or change the course of this disease.  This is an observational study that is seeking information and samples from participants.  Participants will not be involved in taking any experimental medication or undergoing any experimental procedures. Individuals who would like to be a part of this large undertaking should visit the Michael J. Fox Parkinson’s Progression Markers Initiative web page for further information.




written by Marcia McCall


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