Spotlight: The Neuro-D lab Leiden

Principal Investigator: Dr. Willeke van Roon-Mom

Location: Leiden University Medical Centre, Leiden, The Netherlands

Year Founded: 1995

What disease areas do you research?

What models and techniques do you use?

A group photo of members of the Neuro-D lab Leiden standing outside on a patio.
This is a group picture taken during our brainstorm day last June. From left to right: Boyd Kenkhuis, Elena Daoutsali, Tom Metz, Ronald Buijsen, Willeke van Roon-Mom (PI), David Parfitt, Hannah Bakels, Barry Pepers, Linda van der Graaf and Elsa Kuijper. Image courtesy of Ronald Buijsen.

Research Focus

What is your research about?

The Neuro-D research group studies how diseases develop and progress at the molecular level in several neurodegenerative diseases. They focus on diseases that have protein aggregation, where the disease proteins clump up into bundles in the brain and don’t work correctly.

We focus strongly on translational research, meaning we try to bridge the gap between research happening in the laboratory to what is happening in medical clinics. To do this we use more “traditional” research models like animal and cell models. But we also use donated patient tissues and induced pluripotent stem cell (iPSC) models, which is closer to what is seen in medical clinics.

Our aim is to unravel what is going wrong in these diseases, then discover and test potential novel drug targets and therapies.

One thing we are doing to work towards this goal is identifying biomarkers to measure how diseases progress over time. To do this, we use sequencing technology and other techniques to look at new and past data from patients.

Why do you do this research?

So far there are no therapies to stop the progression of ataxia. If we can understand what is happening in diseases in individual cells, we can develop therapies that can halt or maybe even reverse disease progression.

Identifying biomarkers is also important, because it will help us figure out the best time to treat patients when we eventually have a therapy to test.

Stylized logo for the Dutch Center for RNA Therapeutics
The Neuro-D lab Leiden is part of the Dutch Center for RNA Therapeutics, which focuses on RNA therapies like antisense oligonucleotides. Logo designed by Justus Kuijer (VormMorgen), as 29 year old patient with Duchenne muscular dystrophy.

Are you recruiting human participants for research?

Yes, we are! We are looking for participants for a SCA1 natural history study and biomarker study. More information can be found here. Please note that information about this study is only available in Dutch.

Fun Fact

All our fridges and freezers have funny names like walrus, seal, snow grouse and snowflake.

For More Information, check out the Neuro-D lab Leiden website!


Written by Dr. Ronald Buijsen, Edited by Celeste Suart

Snapshot: What is a biomarker?

A biomarker is any biological-based measurement that provides useful information regarding a person’s health. For example, blood test results showing increased glucose levels can be used as a biomarker for diabetes. A blood test showing an increased white blood cell count is a biomarker for infection. There are many sources of biomarkers beyond blood biomarkers. MRI, CT, and x-ray scans are all examples of imaging biomarkers. Scored motor assessments can also be used as biomarkers. For example, police use the field sobriety test as a biomarker for alcohol consumption.

Biomarkers can be used to:

  • Diagnose an existing disease or predict a patient’s prognosis.
  • Track disease progression.
  • Determine whether experimental drugs prevent, improve, or slow progression of disease within clinical trials.

close up photo of a measuring tape on a white background, with the end fading off into the distance.
Biomarkers act like a measure tape for diseases. Photo by Pixabay on Pexels.com

What are current biomarkers for spinocerebellar ataxias (SCAs)?

There are multiple biomarkers that are commonly used for patients with ataxia. DNA sequencing from saliva or blood samples of undiagnosed patients with ataxia symptoms can be used to diagnose or rule out SCAs caused by known genetic mutations. The Scale for the Assessment and Rating of Ataxia (SARA) scoring is a common motor assessment used to measure and track severity of ataxia-related balance and coordination issues in patients. MRI scans and other brain imaging techniques can be used to examine brain abnormalities or loss of brain cells.

Why do we need better biomarkers for SCAs?

In an ideal clinical trial, a patient would receive the potential treatment and then undergo a simple assessment (i.e. give a blood sample) shortly after that could conclusively determine whether the drug is working. Thankfully, many potential ataxia treatments are currently in development or are already being tested in clinical trials for patients with SCAs. Unfortunately, we currently do not have an easy, cheap, and sensitive way to measure whether ataxia symptoms are worsening or improving in a relatively short amount of time.

How can we identify better biomarkers for the SCAs?

Researchers are actively seeking better biomarkers for SCAs in animal and cell models of ataxia. There are also multiple ongoing “Natural History” and biomarker clinical trials that focus on different types of SCA diseases. These clinical studies aim to improve our understanding of the SCAs and identify new biomarkers to improve ataxia diagnosis and drug development. These studies may track patients over months or years, and can involve multiple tests, including blood or cerebrospinal fluid samples, brain imaging, or SARA scoring.

If you would like to learn more about biomarkers, take a look at these resources by the ALS Association and News Medical.

Snapshot written by Dr. Lauren Moore and edited by Dr. Gulin Oz.