Leading the Vanguard: Anna Pfalzer

Anna Pfalzer smiling

Vanderbilt Kennedy Center (VKC) member Anna Pfalzer, Ph.D., is research assistant professor of Neurology. Her research focuses on understanding the earliest molecular and cognitive changes in Huntington disease (HD).

In the interview below, Pfalzer shares what inspires her research in developmental disabilities, what she’s learned through her work, and how membership with the Vanderbilt Kennedy Center helps her achieve her goals.

Tell me about your attraction to developmental disabilities research. Do you have a personal connection to disability?

I am relatively new to the field of developmental disabilities as my background is in translational models of neurodegenerative disorders with a focus on identifying early biomarkers of disease. During my postdoctoral fellowship, I used a mouse to study Huntington disease (HD), which is caused by a mutation in the Huntingtin gene which you can inherit from a biological parent. Historically, people study HD later in life when motor and memory symptoms are present. However, our group (as well as others) have suggested that there are cognitive and behavioral consequences of this mutation well before participants start exhibiting motor symptoms. Biologically, there is a basis for this as people are born with this mutation. The hypothesis that HD might impact an individual’s neurodevelopment was what brought me into the developmental space to better understand the research tools available and the clinical resources available to the HD community.

What are your current research interests?

My current research focuses on identifying the earliest symptoms of HD and to determine whether the mutation in the Huntingtin gene truly impairs neurodevelopmental processes. To address some of these unknowns requires first identifying the most appropriate outcome measures to assess cognitive, psychiatric, and motor changes. This is a large undertaking since the field of HD research has been predominantly focused on the same set of cognitive and psychiatric assessments which identify deficits in neurodegenerative populations. Thus, our group is currently investigating and validating the use of standardized, neurodevelopmental assessments in an adolescent and young adult population at-risk for HD. Our task is to identify assessments which are sensitive enough to detect subtle differences in components of cognitive, such as attention, memory, or processing speed in addition to changes to psychiatric health. As a component of this work, I have received a grant from COMBINEDBrain – a consortium representing neurodevelopmental disorders – to better understand these outcome measures and the particular communities that use them.

As a molecular biologist by training, I am particularly interested in coupling our outcome measures with early biomarkers of HD. Again, there are historical biomarkers of HD which are measured in patients and research participants. But these have never been measured in adolescents at-risk for the disease. More importantly, there has been limited research into identifying new biomarkers of early disease – biomarkers which could be used in future clinical trials to determine the efficacy of an experimental treatment.  To begin investigating this, I have received support as a NeuroNEXT fellow to establish a biorepository in these at-risk youth – where children, adolescents and young adults can provide blood samples for future biomarker discovery experiments.

What impact does your work have in the lives of individuals with disabilities and their families?  

Overall, the impact of our work is clear through the personal connections our team develops and maintains with our study participants. Our study team consists of psychologists, neurologists, social workers, research assistants, coordinators, and research nurses. I believe the quality and impact of our work is reflected in the daily phone calls our team receives from research participants who are in need of medical assistance, ranging from an acute crisis situation to chronic mental health issues. I reflect on a recent team meeting where the first phone call after a traumatic event was made to our team. This demonstrates several critical issues: that supporting HD patients requires supporting the family; that there is a need to help kids in these families; and that there is something as researchers we can do to help improve their quality of life and potentially significantly modify the course of disease.

What are your reasons for becoming a Vanderbilt Kennedy Center (VKC) member? How does the VKC enhance the work you do?

As a newbie to the field, I have much to learn from the VKC community. One of the most critical parts of our current work is to identify the most appropriate outcome measures in our population – and the best way to determine this – is to collaborate with seasoned experts in the field of neurodevelopment. One of the most overwhelming parts of branching into a new field is determining where to start: what age to study, what symptoms to look for, and what tool(s) to measure that symptom. One of the most helpful things about the VKC is the plethora of readily available resources – which far surpass those existing in the literature. On a number of occasions, I have looked at our data and thought, “I have no idea how to interpret this?” and in a matter of minutes, I have not only found someone who is an expert in the area, but have also scheduled a meeting with them right across the street from my office. This is a truly unique resource.

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