Emory Investigating Genetics Of Parkinson’s

Emory Investigating Genetics Of Parkinson’s



Michael J. Fox

The Michael J. Fox Foundation for Parkinson’s Re- search (MJFF) is launching a new arm of their ongoing biomarker trial called Parkinson’s Progression Markers Initiative (PPMI) to study individuals with genetic mutations associated with Parkinson’s disease (PD).

Researchers at Emory University School of Medicine will study individuals with genetic mutations associated with PD sponsored by the MJFF.

One such mutation, on the LRRK2 gene, is much more common among Jewish people of Ashkenazi descent than the rest of the population, and has been identified as one of the greatest targets of interest in PD drug development.

Researchers hope that a greater understanding of the biology of people with Parkinson’s or at risk to develop the disease will lead to new therapeutics and strategies to prevent disease onset.

Certain genetic mutations that are more common among Jewish people of Ashkenazi descent can increase risk of diseases like Tay Sachs, breast cancer and Parkinson’s disease. In order to develop more effective treatments and eventually cure these diseases, researchers are searching for substances, processes or characteristics of the body that signal disease risk, onset and/or progression, also known as “biomarkers” (like cholesterol level for heart disease.)

Biomarkers aid in diagnosis and disease management, and help researchers to test new drugs quicker
by measuring biological changes rather than waiting
for clinical improvement in their patients. There are no validated bio- markers for Parkinson’s disease, a reality
PD researchers
are hoping to change.

Principal investigator Stewart Factor, DO, Professor of Neurology at Emory University School of Medicine and his team are enrolling participants for the genetic arm of the PPMI study in the Atlanta area.

Dr. Factor is director of the Emory Comprehensive Parkinson’s Disease Center, and the movement disorders program in the Department of Neurology at Emory. Interested individuals can visit www.michaeljfox.org/ppmi/genetics.

About the Parkinson’s Progression Markers Initiative (PPMI):

  • Launched in 2010, PPMI is a longitudinal clinical study that collects standardized clinical, imaging and biologic data in hopes of identifying a biomarker of Parkinson’s disease progression.
  • There are currently no validated biomarkers for Parkinson’s disease. A biomarker would be a game-changer and could lead to a disease modifying therapy, which does not currently exist for Parkinson’s, and could allow for greater understanding of disease risk, onset and progression.
  • The Fox Foundation has secured 15 industry partners and co- funding sponsors for PPMI, which include Abbott Labratories, Biogen, BMS, Covance, Eli Lilly, GE Healthcare, Genentech, GSK, MErch, Pfizer, and Roche.
  • There is no precedent for a precompetitive study of this size and scale, and all data is shared in real-time with the research community.

Now taking place at 32 clinical sites around the world, PPMI completed initial enrollment of 423 recently diagnosed Parkinson’s patients and 196 controls in April 2013. That month PPMI also began recruiting individuals with the known Parkinson’s risk factors of smell loss and REM sleep behavior disorder.






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