Jennifer is a certified and licensed genetic counselor in the Department of Medical and Molecular Genetics (MMGE) at the Indiana University School of Medicine. She received a Master of Science degree from the Indiana University Genetic Counseling Program in 1998 and she worked as a prenatal genetic counselor for 16 years before joining MMGE in 2014. Since joining the department in 2014, Jennifer has been involved with several Parkinson’s disease research initiatives involving genetic testing, disclosure of genetic research results and telephone genetic counseling. Jennifer helped develop and implement a telephone genetic counseling process for a subset of participants in the Parkinson’s Progression Markers Initiative (PPMI) study, an observational study sponsored by the Michael J. Fox Foundation for Research that follows groups of people with and without Parkinson’s disease.

Jennifer is a member of a genetic counseling team at Indiana University that has provided telephone genetic counseling to over 11,000 Parkinson’s disease research study participants. Jennifer has assisted with the development and implementation of the genetic counseling process for the PDGENEration study, a national initiative sponsored by the Parkinson’s Foundation that offers free genetic testing and genetic counseling for people with Parkinson’s disease. She is a member of the Indiana University Human Research Protection Program (HRPP) Working Group on the Return of Research Results, the Indiana Network of Genetic Counselors (INGC) and the National Society of Genetic Counselors (NSGC). Jennifer’s research interests include evaluation of telephone genetic counseling services and examining the impact of genetic testing and genetic counseling on research participants.

Timothy Sampson, PhD, is an Assistant Professor in the Department of Cell Biology at Emory University. Trained as a microbiologist through both his undergraduate and graduate training, Dr. Sampson subsequently performed postdoctoral studies with Dr. Sarkis Mazmanian at Caltech. There, he began exploring how indigenous gut microbes modulate outcomes of neurological disorders, specifically in models of Parkinson’s disease. Joining the faculty of the Department of Physiology in 2019, and subsequently Cell Biology in 2021, Dr. Sampson’s lab investigates host-microbe interactions at the interface of Parkinson’s and other neurological diseases historically studied within the context of the central nervous system (CNS). Similar to how the study of pathogens has informed the field of immunology, his work aims to reveal new pathways at the microbe-CNS interface.

If you’ve heard of alpha-synuclein, it was likely in the context of Lewy bodies. Lewy bodies are abnormal clumps of alpha-synuclein that are found in the parts of the brain that control movement, thinking, and behavior, and they are related to the development of Parkinson’s. Lewy body dementia is a general term that includes both Parkinson’s disease dementia (when you have Parkinson’s and dementia develops later on) and Dementia with Lewy bodies (DLB) (when dementia comes on before or within one year of Parkinson’s motor symptoms).

Another term used in this episode that you might not be familiar with is “ligand.” A ligand is a molecule that binds to another molecule. Ligands are used in imaging, such as PET scans, to help doctors visualize different parts of the body, including the brain. Currently there is no ligand for alpha-synuclein to let us see how Lewy bodies are forming, or how they might be cleared by a potential therapy.

Dr. Guttman remarks that the alpha-synuclein story is the most exciting development to date in terms of potential for altering the progression of Parkinson’s. It has taken the PD community a long time to reach this point. The first revolution in Parkinson’s care came in the 1960s, with the discovery that Parkinson’s is a disease of dopamine. One hundred and fifty years after James Parkinson’s Essay on the Shaking Palsy, researchers developed a treatment to greatly improve PD symptoms. Over time, many variations of levodopa have provided additional modest benefits for people with PD, and now new delivery methods for levodopa promise to improve outcomes.

Decades later the next breakthrough in care came when the FDA approval deep brain stimulation for the treatment of PD. Today, we know that Parkinson’s is a synucleinopathy – a disease of alpha-synuclein – which brings us to the therapeutic approaches being discussed in this episode.

Dr. Guttman is a movement disorder neurologist at the Centre for Movement Disorders in Toronto, Canada. He provides specialized neurological services to people with movement disorders and is involved with clinical research at the Centre and at the University of Toronto.

Advances in genetics have opened new windows on possible ways to look at the underlying causes of Parkinson’s (and other) diseases. But what is a gene, anyway? Genes are the basic units of heredity. They contain the instructions for making proteins, which do the work within our cells and bodies. There are several genes associated with Parkinson’s. The most common are LRRK2 and GBA. For more information on Parkinson’s genetics, and genetics in general, check out Genetics Home Reference.

Another concept mentioned in the episode that might be new to you is “biomarker.” Biomarkers, short for biological markers, are characteristics of the body that you can measure. They are important to medicine in general and to drug development in particular. Biomarkers tell us how the body is doing and can help identify disease risk or disease progression.

Dr. Simon earned MD and PhD degrees from Washington University in St. Louis and completed the Harvard-Longwood Neurology Residency in Boston, followed by a Movement Disorders Fellowship at Massachusetts General Hospital. He then joined the faculty at Beth Israel Deaconess Medical Center (BIDMC) and Harvard Medical School, where he is now a Professor of Neurology. He is the Chief of the Division of Movement Disorders at BIDMC and Director of the Parkinson’s Foundation Center of Excellence at BIDMC.

Dr. Simon is involved in clinical studies as well as laboratory research to study agents that may have neuroprotective effects in Parkinson’s disease. He was a recipient of the George C. Cotzias Award from the American Parkinson Disease Association and has received additional research funding from the American Federation for Aging Research, Parkinson's Foundation, Michael J. Fox Foundation, and two institutes of the National Institutes of Health (NIH) – the National Institute on Aging and the National Institute of Neurological Disorders and Stroke (NINDS).

Dr. Simon completed a four-year term as a member of the NIH Molecular Neurogenetics study section and currently serves on the NINDS Biospecimen Review Access Committee (PD-BRAC). He is on the Editorial Board for Annals of Neurology. He is a member of the Cure Parkinson Trust’s Linked Clinical Trials Committee and is on the Scientific Advisory Board for the Weston Brain Institute. He also has served as Chair of the Scientific Review Committee of the Parkinson’s Study Group (PSG) and currently is an elected member of the PSG Executive Committee.