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Using genes to track disease

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Jane Spector talks about her role in the Parkinson’s study, at suntimes.com.

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Updated: June 5, 2014 6:03AM



Jane Spector has seen firsthand how devastating Parkinson’s disease can be since her husband was first diagnosed almost 25 years ago.

So when the 70-year-old heard about a new clinical trial that could answer some key questions about Parkinson’s by looking at people like her, she didn’t hesitate in wanting to be a part of it.

Spector, from Lincoln Park, is of Ashkenazi Jewish descent. She also has a genetic mutation associated with Parkinson’s disease, though she shows no sign of having the disease.

Northwestern Medicine and 31 other clinical sites hope that by studying Ashkenazi Jews, as well as people of Basque or North African Berber origin who either have Parkinson’s disease or carry the mutation, they might be able to identify so-called biomarkers that could, for the first time on a large scale, tip them off to who might develop Parkinson’s and help track the disease. The research could eventually result in better treatment for all people who have the disease.

“Although known genetic mutations currently account for only 5 to 10 percent of all Parkinson’s cases, this population can provide invaluable information about the intricacies of the disease for all patients,” said Dr. Tanya Simuni, lead investigator for the study at Northwestern and director of the Parkinson’s Disease and Movement Disorders Center at Northwestern University Feinberg School of Medicine.

People who have either what’s known as the LRRK2 mutation or the SNCA mutation, while rare, are more likely to develop Parkinson’s disease than people who lack the mutation. And those who are descendents from the three ethnic groups being looked at in this study have a higher likelihood of carrying one of those mutations.

Ashkenazi Jews, descended from Eastern Europe, are no strangers to being featured in genetic research studies like this Parkinson’s study, in part because of the comparative prevalence of some genetic diseases within the community. Ashkenazi Jews are more likely to carry gene mutations for at least 19 inherited disorders, including cystic fibrosis, Tay-Sachs disease and spinal muscular atrophy. They also are at a higher risk to be carrying a BRCA gene mutation that increases the risk of breast and other cancers.

But it’s not that Ashkenazi Jews have “bad genes.” Those who have each of these diseases represent a small percentage of the entire Ashkenazi population.

It has more to do with their tendency to marry other Ashkenazi Jews, who originally came from a small group of founders.

“For centuries, either political reasons or religious reasons, people that were Ashkenazi Jewish were genetically isolated from the population at large,” said Aishwarya Arjunan, a genetic counselor for the Center for Jewish Genetics.

Arjunan added that there are likely many more ethnic groups like this. It’s just that more is known about Ashkenazi Jews because that is a group that has been studied longer.

In light of her years of caring for her husband, Spector said she was eager to be a participant in the study, if it ultimately leads to a new treatments for people with Parkinson’s.

“Being very aware of Jewish history, and the immigrant history and my own family’s history I immediately understood why this was such a good group to study and why The Michael J Foundation is funding this as part of this great initiative of finding Parkinson’s markers,” she said.

The study, known as the Parkinson’s Progression Markers Initiative (PPMI), is sponsored by The Michael J. Fox Foundation for Parkinson’s Research.

For more information, visit michaeljfox.org/ppmi/genetics, call (888) 830-6299 or email pdclinicaltrials@northwestern.edu.

Email: mjthomas@suntimes.com

Twitter: @MonifaThomas1



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