Veronique Belzil, Ph.D., M.S.

  • Associate Consultant, Department of Neuroscience
  • Assistant Professor of Neuroscience, Mayo Clinic College of Medicine and Science
  • Area of research: Molecular neuroscience

What sparked your interest in individualized medicine?

In 2000, my husband's uncle passed away from rapid progression of amyotrophic lateral sclerosis (ALS). At that time, I was working as counselor in my native country of Canada and my husband was a paramedic and nurse, but we both felt a calling to do something to help develop treatments for this devastating disease.

I went back to school for a doctorate in neuroscience, with a focus on the genetics of ALS. At the same time, my husband transitioned into research nursing. I came to Mayo in 2012 for a postdoc position and developed my own ALS-focused research program, which has led to now having an independent lab in which my husband and I work together to develop individualized treatments to neurodegenerative diseases.

We take an individualized approach to our research because clinical presentation and genetic risk factors vary so much across patients, and because most patients don't have other family members affected. In fact, as many as 83% of patients report no family history of ALS; creating individualized genetic profiles therefore allows for personalized genetic treatment for specific subgroups of patients.

Our family, which also includes our two teenage daughters, also is very involved in the community, offering information sessions to patients with ALS and their families, fundraising for ALS research and clinical care, and advocating to increase disease awareness. It's truly become a family mission to make a difference in patients' lives.

What is your focus as a Gerstner Family Career Development Award recipient?

My research is aimed at developing individualized approaches to treat two neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

These two diseases were originally thought to be distinct, but it is now recognized that they share many clinical, pathological and genetic signatures. However, the mechanistic basis of their circuitry remains unknown at the molecular level. By profiling transcriptional and epigenomic alterations of ALS and FTD, my research advances the understanding of the genes and pathways that are common between them and distinct to each disease.

Specifically, the research project supported by the Gerstner Family Career Development Award dissects individual cells from two different regions of the brain to create genetic and epigenetic profiles. These profiles then help us identify potential biomarkers and therapeutic targets for ALS and FTD. My team is nearing completion of this first step of our research, and we're excited about our preliminary results.

The second step of this research project will be to validate our findings in human cells to translate our discoveries into patient care. The genetic and epigenetic profiles we're creating will help validate specific genes as targets for individualized gene therapy. These personalized treatments will hopefully stop brain cell degeneration in patients, and even prevent it if administered early enough.

How will your research improve patient care?

ALS and FTD are devastating and fatal neurodegenerative diseases that strike middle-aged adults just as they reach full familial, financial and career potential. Currently, no biomarkers have been identified to predict progression of disease, and there is no treatment to prevent, decelerate or stop neuronal death caused by these diseases. Predicting new therapeutic targets provides new hope for patients with ALS and FTD.

Clinical presentation in patients with ALS varies quite a lot, with significant variability in age of onset, site of onset, disease duration, upper versus lower motor neuron involvement, and cognitive or behavioral impairment, making early diagnosis, prognostic predictions and stratification during clinical trials challenging.

The successful identification of ALS biomarkers will enable early and confident diagnosis, more accurate prediction of prognosis, stratification of patients for clinical trials, the use of surrogate endpoints, and a means of assessing target engagement during clinical trials. As such, reliable biomarkers are pivotal for improving the ability to recognize and treat this disorder.

My lab is working closely with the Mayo ALS Clinic, part of the Department of Neurology, to move significant findings quickly into clinical trials.

How has the Gerstner Family Career Development Award helped advance your research?

The Gerstner Family Career Development Award covers a great portion of my salary and benefits as a full-time investigator, allowing the entirety of my lab's grant funding to be designated for research. I wouldn't be able to carry out this important work without the Gerstner family's support, and I'm extremely grateful for their recognition of our work.

Why did you choose Mayo Clinic to explore research?

I chose Mayo Clinic primarily because its core value, that the needs of the patient come first, aligns with my personal values and the motivation behind my work.

The unique possibility of translating findings directly to the clinic allows me to help patients faster, while access to Mayo Clinic's extensive biobanks provides unparalleled research tools. Additionally, the breadth and depth of my colleagues' expertise complements my research and provides many appealing opportunities for collaboration.

Finally, when my family moved to Jacksonville so I could start my postdoc, we had two young children and wanted to be able to raise them in one place. The possibility of building a career at Mayo Clinic after my postdoc allowed me to pursue my passion while balancing the needs of my family.