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Dr. Marka Van Blitterswijk: ALS Researcher Focused on Discovering Biomarkers for the C9orf72 Gene Mutation

Innovation plays a key role in The ALS Association’s fight to develop treatments and a cure for ALS and to empower people living with the disease to live their lives to the fullest. In this series of articles, we are celebrating some of the key innovations helping us change the nature of ALS forever.

Dr. Marka Van Blitterswijk from the Mayo Clinic Jacksonville is a scientist and one of our former Milton Safenowitz postdoctoral fellows. Since moving on from the program, she has established her own ALS lab as an assistant professor. We recently awarded her a prestigious multi-year grant surrounding her biomarker work.

Today, we sit down with Dr. Van Blitterswijk to hear about her latest work in ALS biomarkers, focused on the most common gene mutation in ALS, called C9orf72. We are thrilled to see her career and ALS research efforts thrive.

Biomarkers are any measurable substance in the body that can be tracked over time. For example, researchers like Dr. Van Blitterswijk are looking to track specific protein and RNA levels in the brain, cerebral spinal fluid (the fluid that surrounds and protects the brain and spinal cord), and blood.

Currently, there are no FDA-approved biomarkers on the market for ALS. Once approved, an ALS biomarker will be a game-changer in the ALS community.

Biomarkers will help to improve ALS diagnosis, track and predict disease progression over time, monitor a person’s response to therapy, and understand whether a drug is hitting its intended target.

Keep reading to learn about Dr. Van Blitterswijk’s work surrounding ALS C9orf72 biomarkers and get to know the person behind the lab bench.

Thank you for joining us today! Briefly describe your academic background.

In 2008, I obtained my M.D. degree at the University Medical Center in Utrecht in the Netherlands. As a Fulbright fellow, I subsequently spent one year in Boston/Worcester in Massachusetts to work with Drs. Bob Brown, John Landers, and Daryl Bosco.

Upon my return [to the Netherlands], I started my Ph.D. program with Drs. Leonard van den Berg, Jan Veldink, and Michael van Es. After completing my program in 2012, I joined Dr. Rosa Rademakers’ laboratory at Mayo Clinic Jacksonville in Florida.

As an assistant professor of neuroscience, I have my own laboratory at Mayo Clinic that focuses on the identification of novel ALS genes, disease modifiers, and biomarkers using innovative patient-oriented approaches.

Why did you decide to study ALS over other diseases?

At an ALS referral center in the Netherlands, I diagnosed someone with ALS who started to develop symptoms during her pregnancy. She encountered difficulties lifting her right arm. Her symptoms progressed rapidly. Within a few months, she needed constant help.

When her son was nine months old, she told me she had been unable to breastfeed him or to change his diapers, and that “my husband takes care of us, as if we are twins.” I admired her perseverance and wanted to help her as much as I could.

It struck me how little was known about ALS; therefore, I devoted my research career to this debilitating disease, hoping my work would aid in unraveling its underpinnings, and eventually, finding a cure.

Briefly summarize your funded project. 

One of my ongoing projects, jointly funded by The ALS Association and The Robert Packard Center for ALS Research, concentrates on the variability that has been observed in patients with the most common cause of ALS described to date: a small piece of DNA that is repeated over and over again in a gene called C9orf72.

Currently, it’s unclear, for instance, why some people develop symptoms in the second decade of their life, whereas others remain healthy well into old age. My laboratory seeks to discover factors, also known as biomarkers, that help to explain this variability and could be used to predict disease onset, severity, or progression.

To this end, we’re investigating RNA and protein levels obtained from a range of brain tissues, as well as bodily fluids, such as blood and the fluid found in brain and spine (cerebrospinal fluid). These experiments will allow us to obtain a biomarker signature of the brain and spine.

What is the potential impact of your project on the ALS research field?

Given the lack of validated biomarkers that could be used for diagnostic purposes, as prognostic indicators, or to monitor drug effects, our detailed patient-oriented studies hold promise. Our pioneering strategy gives us the opportunity to identify a biomarker signature that is characteristic for C9orf72-linked diseases.

Although our studies concentrate on patients carrying an expanded repeat in C9orf72, we will also examine other patients, enabling us to reveal general biomarkers shared among patients with ALS and/or related diseases. We strongly believe the identification of reliable biomarkers is crucial, especially for the development of new therapeutic approaches to slow down or halt disease progression.

What do you do for fun?

I love long-distance running. Florida has beautiful beaches, and an early morning beach run really boosts my creativity. Many people can’t start their day without a steaming cup of coffee. I can’t bear a morning without a refreshing run. In fact, I generally run to and from work, even when it’s more than 90 degrees or raining.

Anything else you’d like to add?

I’m honored the Association is still supporting me. I’m confident [the Association’s] funding, trust, and encouragement helped me win the Paulo Gontijo International Award in Medicine for ALS Research in 2017. Through vital support of early-stage investigators, the Association is shaping the next generation of ALS researchers. I’m delighted to be part of that generation.

Thank you for sitting down with us. Best of luck and please keep us posted on all your future successes!

For more information about Dr. Van Blitterswijk, click here.

We proudly support Dr. Van Blitterswijk’s biomarker project and many other biomarker projects around the globe.