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What We Fund: $17.8M Toward Research into Biomarkers, Gene Therapy, Genetics and the Role of the Blood-Brain Barrier in PD

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

The Michael J. Fox Foundation (MJFF) announces 67 grants that total more than $17.8 million awarded in October and November 2023.  

Here we review some of the supported projects aiming to advance our understanding of Parkinson’s disease (PD) and improve diagnostic tools and treatments. See full list of MJFF funded studies.  

Confronting the Blood-Brain Barrier 

The blood-brain barrier is a membrane that protects the brain from potentially damaging toxins and pathogens circulating in the blood. But recent studies indicate this barrier may not work properly in people with PD, allowing harmful blood-borne factors to contact brain cells. 

With funding from the Summer 2023 RFP: Accelerating Biological Understanding and Therapeutic Translation for Parkinson’s Disease Program, Aurelie de Rus Jacquet, PhD, and her team at Université Laval plan to study the interactions between cells outside the brain, the specialized cells comprising the blood-brain barrier and neurons in people with PD.  

Learning how cells outside the brain might alter the blood-brain barrier and relay toxic signals to the brain would help researchers understand contributing factors leading to PD and identify potential drug targets outside the brain, removing the need for a therapy to effectively cross the blood-brain barrier. 

Clearing Alpha-synuclein with Novel Gene Therapy Approaches 

A build-up of misfolded alpha-synuclein contributes to PD, but researchers have struggled to find effective ways to reduce it. One approach is gene therapy, which uses carrier molecules, called vectors, to deliver treatment to target cells in the body. Once injected, the vectors pass the therapeutic gene that they are carrying to the cells that need it.ra 

  • A team led by Birgitt Schuele, MD, at Stanford University, is working with CRISPR technology to develop a safe, effective way to deliver alpha-synuclein-reducing gene therapy. With funding from the Spring 2023 RFP: Accelerating Biological Understanding and Therapeutic Translation for Parkinson’s Disease, they are testing different delivery approaches and analyzing how the therapy gets distributed through the brain and peripheral organs and how the immune system responds to the treatment in small models of PD. 

  • A team led by Maria Xilouri, PhD, at the Biomedical Research Foundation of the Academy of Athens, is using gene therapy to boost the activity of the lysosomal chaperone-mediated autophagy pathway, which is responsible for eliminating damaged and altered proteins such as the misfolded alpha-synuclein protein that we see in PD.  Tests in large models indicated that their approach may improve cognitive functioning related to the prefrontal cortex, such as the ability to focus, plan and accomplish tasks. Extension funding through the Summer 2023 RFP: Accelerating Biological Understanding and Therapeutic Translation for Parkinson’s Disease Program allows the researchers to continue this research and learn more about the effects of their gene therapy approach. 

Learning How Lysosomes Affect PD Development 

Lysosomes carried inside cells are responsible for clearing certain proteins, such as alpha-synuclein, and old or damaged organelles, such as mitochondria. Impaired lysosomal functioning has been linked to the development of PD.  

  • MJFF’s Lysosomal Biomarkers Program was established to develop, optimize and validate biomarkers related to lysosomes. Five research teams recently received funding through the program, including teams led by Zhenyu Yue, PhD, at the Icahn School of Medicine at Mount Sinai, Eleanor Coffey, PhD, at Åbo Akademi University and Erez Eitan, PhD, at NeuroDex. Using different approaches, all are focused on developing a test for lysosomal functioning that could be used to detect PD and monitor its progression.  

  • Specific mutations in the GBA and LRRK2 genes are known risk factors for PD, but researchers are still learning how these mutations contribute to the disease development. Two research groups received funding to study the effects of these mutations on lysosomal functioning: researchers led by Maximiliano Gutierrez, PhD, at the Francis Crick Institute are focused on LRRK2, and researchers led by Monther Abu-Remaileh, PhD, at Stanford University are focused on GBA. Both were funded through the Summer 2023 RFP: Accelerating Biological Understanding and Therapeutic Translation for Parkinson’s Disease Program. 

Elucidating Subtypes of PD 

PD is known to develop differently in different people, and many questions remain about the underpinnings for this heterogeneity, which occurs even among people with the same genetic cause of Parkinson’s. Understanding and clarifying different subgroups can help guide research and identify new therapies related to specific causes and increase the likelihood that clinical trials succeed. Two research groups received funding to shed light on PD subtypes: 

  • Fábio Klamt, PhD, and his team at Federal University of Rio Grande do Sul aim to use genetic data from the Foundation’s Parkinson’s Progression Markers Initiative (PPMI) to identify immunologic markers that drive differences in how the PD evolves and progresses. The work could improve current subtyping and provide insights on novel biomarkers and therapeutic targets for each subtype. This research was funded through the Spring 2022 RFA: Parkinson’s Pathway Molecular Data Analysis Program. 

  • Rachel Saunders-Pullman, MD, MPH, MS, and her team at the Icahn School of Medicine at Mount Sinai are analyzing data spanning many years from patients with LRRK2-related PD, GBA-related PD and PD not linked to genetic targets. They aim to determine subgroups of patients with PD based on how their disease progresses over time, including sex differences in genetic PD, and then study relationships to their genetic, clinical, demographic and biochemical data. Funded through the Spring 2023 RFA: Data-Driven Subtyping and Stratification Program, the research aims to improve understanding of drivers of Parkinson’s progression.  

Growing Patient Registries 

MJFF continues to fund research to track patterns and trends of PD across diverse populations — including factors such as race and ethnicity, socioeconomic status and history of exposure to occupational and environmental toxins. Patient registries play a critical role in filling this information gap, and in doing so, helping to accelerate research and progress toward a cure.  

MJFF has long advocated for patient registries, and the Foundation’s state government affairs team has been active in efforts to pass Parkinson’s registry bills in several states.  

In support of the recently established South Carolina Parkinson’s Disease Registry, the Foundation has provided funding to help establish an advisory committee, build a statewide network of providers, inform the community and develop a team to support the registry. Led by Gonzalo J. Revuelta, DO, at the Medical University of South Carolina, this new registry is designed to collect and disseminate information on the incidence and prevalence of PD and related disorders in South Carolina.  

Detecting PD Through the Eyes 

Research has shown that specific changes in the eye occur in PD and that these changes occur early, when the disease may be most treatable. The changes are subtle, though, and need to be detected with the use of imaging techniques, including fundus photography and optical coherence tomography (OCT), which capture structural and vascular changes in the back of the eye.   

Researchers led Jayashree Kalpathy-Cramer, PhD, at the University of Colorado Anschutz Medical Campus aim to use these noninvasive imaging approaches to develop an accurate, cost-effective test for PD. With funding from the 2023 RFP: Accelerating Biological Understanding and Therapeutic Translation for Parkinson’s Disease Program, they are mining a large database of fundus photographs and OCT images to teach an artificial intelligence algorithm to detect early signs of PD. If successful, the test eventually might be used in eye clinics to identify people at-risk for developing PD and provide them with additional neurological screening. 

The Michael J. Fox Foundation continues to fund advances in technology and medicine to drive toward effective therapies that can prevent, slow or stop disease progression.   

You can be a part of that mission.   

The Parkinson’s Progression Markers Initiative (PPMI) is our landmark study on a mission to stop the disease. It is open to anyone over age 18 in the United States. Whether you have Parkinson’s or not,  join the study that could change everything.   
Recently diagnosed with PD or live outside the U.S.? Connect with the PPMI team.   

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