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Q&A with Dr. Mark Ebbert: Searching for Alzheimer’s Disease Treatments and Diagnostics

June 17, 2022

The PhRMA Foundation caught up with Dr. Mark Ebbert, winner of a 2017 Foundation Starter Grant in Translational Medicine, to talk about his work using cutting-edge sequencing technologies and bioinformatics to study Alzheimer’s disease.

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Dr. Mark Ebbert, winner of a 2017 Foundation Starter Grant in Translational Medicine, uses cutting-edge sequencing technologies and bioinformatics to study Alzheimer’s disease etiology and develop pre-symptomatic diagnostics and meaningful therapeutics. He is an assistant professor in the Sanders-Brown Center on Aging at the University of Kentucky.

Q: Briefly describe your research related to Alzheimer’s disease.

Dr. Ebbert: Like many researchers, one of my long-term goals is ultimately to help develop a meaningful treatment for Alzheimer’s disease — but a meaningful treatment will only be meaningful if we are able to detect disease before symptoms onset. Thus, my second long-term goal is to develop a pre-symptomatic disease diagnostic. Alzheimer’s disease is not like other ailments like physical injuries or cancer that our bodies can heal from with treatment; we simply cannot heal from Alzheimer’s disease. By the time Alzheimer’s disease symptoms onset, it’s too late to treat. That’s why a pre-symptomatic disease diagnostic is equally important to a meaningful treatment. My lab is applying cutting-edge genomics and sequencing technologies to identify direct drivers of Alzheimer’s disease.

Q: What do you hope to achieve with your research? Why is it important?

Dr. Ebbert: We ultimately aim to help develop a meaningful treatment and a pre-symptomatic disease diagnostic. We believe the next critical step to achieving these goals is to identify specific mechanisms driving disease. We often hear news about “new genes” being implicated in disease, which results in high-profile news publications, but the truth is that we still know very little about any of the genes — especially the top Alzheimer’s disease genes. In fact, there have now been more than 70 genes implicated in the disease. While identifying all genes involved in a disease is important, very little work is being done to understand how the even top genes are driving disease (i.e., we lack mechanism), which leaves researchers “shooting in the dark” to develop treatments and diagnostics. We’re performing targeted studies directly in the diseased tissue to identify clear mechanisms that can be targeted for both treatment and diagnosing the disease pre-symptomatically.

Q: How did the PhRMA Foundation award impact your research?

Dr. Ebbert: My research has truly blossomed since receiving the starter grant from the PhRMA Foundation. The award made it possible for me to develop critical preliminary data needed to demonstrate that the approaches I’m taking are meaningful. Because of the investment the PhRMA Foundation made in my research, I have since successfully competed for nearly $5 million in additional grant funds and have established a full-size genomics lab at the University of Kentucky’s Sanders-Brown Center on Aging — one of the original and premier Alzheimer’s Disease Research Centers, which just celebrated its 50th anniversary. My lab currently has nine members, and we are actively pursuing the goal to help develop a meaningful treatment and a pre-symptomatic disease diagnostic.

Q: What are the challenges and opportunities you see in the field of Alzheimer’s disease research?

Dr. Ebbert: It’s no secret that Alzheimer’s disease is the only top disease lacking a meaningful treatment, and it has been woefully underfunded, historically. Fortunately, increased funding is helping, but we are still too far behind — particularly in understanding how the top Alzheimer’s disease genes are driving disease. We need increased support to identify specific mechanisms driving disease.

Q: What keeps you motivated and why are you hopeful for the future of Alzheimer’s disease research?

Dr. Ebbert: I am very hopeful for the future of Alzheimer’s disease research, diagnostics, and treatment. As a whole, researchers have access to technologies, approaches, and funds that have we have never had before. Alzheimer’s disease is finally beginning to receive the attention and commitment it needs for it to be adequately addressed. There’s so much to do, but we’re starting to get the resources we need to do it.

Q: What advice would you give scientists starting out in their career who want to explore the field of Alzheimer’s disease?

Dr. Ebbert: Probably the best advice I can give is to regularly add to their expertise. Never become stagnant in your learning, skillset, and approaches. To be clear, I’m not suggesting scientists “hop” between skillsets, but that they incorporate new approaches to improve their science and their expertise.