Alumnus studies genetic factors for Alzheimer’s disease

More than 50 million people worldwide have dementia, according to the World Health Organization. Families with a loved one battling Alzheimer’s disease— the most common form of dementia— bear witness to its devastating effects of memory loss, confusion and the inability to complete everyday tasks.  

Kunkle was born and raised in a small town by the Pocono Mountains in Pennsylvania. He loved the outdoors and grew interested in environmental science, which led him to pursue a bachelor’s degree in geo-environmental studies at Shippensburg University. In 2005, Kunkle was accepted to Stempel College, where he completed dual master’s degrees in epidemiology and environmental health and later a Ph.D. in public health.

Today, Kunkle is an assistant professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and the John P. Hussman Institute for Human Genomics at the University of Miami (UM). In this role, he directs analysts, writes grants and research papers, and investigates the causes of complex diseases like Alzheimer’s disease.

FIU News sat down with Kunkle to learn what got him interested in a career in genetic epidemiology of complex disease and what advice he’d give to students.

What sparked your interest in working toward finding a cure for diseases like Alzheimer’s disease?

While I was an undergrad at Shippensburg University, my grandmother was diagnosed with Alzheimer’s disease – she was in her 60s. This really affected me. She was great as a grandparent to my two younger brothers and me. She just did what a grandparent does. She was patient, empathetic and showed unconditional love to her grandkids. Also, in general, she was a very kind person and it seemed like everyone loved her. Everyone called her ‘honey.’

What changes did you see in her that motivated you to pursue a career in public health?  

As the disease progressed, she just wasn’t the happy, outgoing person I had known. She seemed withdrawn and had difficulty speaking. And it got to the point where she didn’t remember who I was or even know who my grandfather was—the person she was married to for over 50 years. And it was heartbreaking for the entire family, especially to watch my grandfather and my father suffer through it all.

It made me realize how devastating a disease like this can be because it lasts years beyond diagnoses and gets gradually worse. It is very tough on families and caregivers. My grandfather on my mom’s side suffered from dementia also years later, and this was similarly hard on our family. So that just reinforced my drive to try and understand the causes of dementia and make a difference in fighting and hopefully preventing these diseases.  

How did you get the experience needed to get to where you are today?

Stempel College helped me get hands-on research experience while assisting great faculty. I also was able to get real-world experience at places like the Miami-Dade County Health Department, where I participated in an internship with the Centers for Disease Control and Prevention (CDC). These opportunities helped me understand what it would be like to work at a health department and what I would be doing if I pursued the research side. The research side interested me the most as it allowed me to investigate complex diseases and taught me how to ask the right questions.

Stempel College also exposed me to different aspects of public health—I learned about epidemiology, social and environmental health risk factors, population health disparities, and how each of these plays a role in complex diseases. I also obtained biostatistical knowledge to be able to analyze data.

Overall, I felt like my master’s degree in the public health program gave me a good base on how to unpack these questions. However, I didn’t have the credentials needed to lead studies, so I later pursued my doctoral degree in public health at Stempel College.

What type of work are you doing now?

In 2011, after I graduated from my doctoral program, I was hired as a postdoctoral researcher at UM, working alongside a renowned Alzheimer’s disease researcher—Dr. Margaret Pericak-Vance. This work helped me learn about genetic epidemiology and how genetics can influence diseases like Alzheimer’s. It also led to a landmark publication in Nature Genetics, where I led a large study with the International Genomics of Alzheimer’s Project (IGAP) that found several new genetic factors for Alzheimer’s disease.

Since then, I’ve been working as a professor and researcher at UM. Right now there’s a significant disparity around the amount of genetic data we have on different populations in the U.S. This lack of data impacts our ability to find the genetic factors that could influence disease, and ultimately our ability to develop successful therapeutics.

One of the main focuses of my current research is to try and increase the amount of genetic data that we have on underserved populations such as Black and Hispanic populations, as they are at increased risk of Alzheimer’s disease compared to non-Hispanic white populations. We know that some genetic risk factors for Alzheimer’s differ by ancestry, but more research is needed. These differences could be influenced by social and environmental factors that interact with genetics to influence risk of disease. I am also interested in collecting data that helps answer why these differences in risk among populations exist.

What would you say to someone who wants to get into the work that you’re doing?

I think having an open, curious mind and trying to learn different aspects of public health is essential. Make sure to have some exposure across many areas of public health like environmental health and biostatistics. Understanding the social and biological aspects of public health is important. Try to get a well-rounded experience.