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Funded Research: Relief for Constipation, Looking for a New Causative Gene, and the Genetics of Gender Differences in Parkinson’s Disease

Funded Research: Relief for Constipation, Looking for a New Causative Gene, and the Genetics of Gender Differences in Parkinson’s Disease

Every research project we fund is a step closer to new and better therapies for people with Parkinson's disease (PD).  To keep you informed of the Foundation's research investments, we're highlighting a few exciting, newly funded grants each month. To learn more about these studies and the more than 500 active research projects that The Michael J. Fox Foundation (MJFF) is supporting, visit our Funded Grants page.

Relief for Persistent Constipation
Keith Gottesdiener, MD
Rhythm Pharmaceuticals, Inc., Boston, Massachusetts

Medication may help PD patients dealing with chronic constipation.

Constipation presents a real issue for Parkinson’s patients, causing extreme discomfort and lessening the body’s ability to absorb medicine used to treat PD. It can also be difficult to treat. Keith Gottesdiener, MD, is leading MOVE-PD, a clinical trial to investigate how patients with PD and chronic constipation respond to an experimental drug called RM-131. Researchers will enroll 56 Parkinson’s patients for two 14-day study periods—one with placebo and one with RM-131—and ask them to complete daily diaries to evaluate the effectiveness of the medication.

Validating a New Causative Gene for Parkinson’s
Birgitt Schuele, MD
The Parkinson’s Institute, Sunnyvale, California

Looking for genes not yet identified that play a role in Parkinson’s onset.

Identifying changes in a person’s genetic makeup that might lead to PD is one of the most important research avenues toward preventive and disease-modifying therapies. Many susceptibility genes for Parkinson’s have been found, but a causal genetic variant has been identified in only five to 10 percent of PD cases. Birgitt Schuele, MD, has searched for a new causal gene by looking for a “copy number variation”—where people may have either extra copies or too few copies of a gene. The more classic type of mutation usually studied by scientists sees one DNA letter (A,C,T,G) changed to another letter. In this project Schuele will further investigate one candidate gene involved in mitochondrial function.

Genetics’ Role in Parkinson’s Gender Differences
Rachel Saunders-Pullman, MD
Albert Einstein College of Medicine and Beth Israel Medical Center, New York, New York

Comparing biomarkers between men and women in LRRK2 and idiopathic PD can help differentiate between hormonal and genetic effects.

There are gender differences in Parkinson’s disease: Men have a higher risk of Parkinson’s, and women are thought to experience PD onset later than men. We also see Parkinson’s attributed to a genetic cause, such as a mutation of the LRRK2 gene, and idiopathic PD, where we don’t know the cause. Rachel Saunders-Pullman, MD, is comparing clinical features of men and women in both categories, LRRK2 PD and idiopathic PD. If Parkinson’s-implicated genetic changes differ between men and women, the field could gain actionable new insights into patient care and therapeutic development.

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