Researcher Spotlight: Willeke van Roon-Mom

Welcome to our next Researcher Spotlight, where we highlight the work our research partners are doing to advance therapeutics to treat rare and ultra-rare neuromuscular disorders.

Meet Willeke van Roon-Mom, PhD, from Leiden University Medical Center! In this conversation, we discuss the projects Dr. van Roon-Mom is involved in and her partnership with Cure Rare Disease. 

Dr. van Roon-Mom is a Professor of Human Genetics at Leiden University Medical Center and conducts translational research on neurodegenerative diseases. She received her Master of Science in Medical Biology at the University of Groningen and obtained her PhD from the University of Auckland in New Zealand, where she studied Huntington’s Disease. 

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Which therapeutic are you working on in collaboration with Cure Rare Disease?

We partnered with CRD to develop an antisense oligonucleotide (ASO) therapeutic to treat Spinocerebellar Ataxia type 3 (SCA3). SCA3 is caused by a repetition in part of the ATXN3 gene, which codes for the ataxin-3 protein. This repeat makes the ataxin-3 protein toxic to the brain, and results in symptoms including motor impairment, difficulty swallowing or speaking, impaired eye movement or vision, and nerve damage. People with SCA3 typically live between 6 and 20 years after onset of the disease, and cause of death is often due to choking or aspiration pneumonia.

The ASO is a single-stranded molecule that can bind to a complementary sequence of ATXN3 messenger RNA to prevent the toxic repeat from being included in the final transcript. A slightly shorter protein is produced that still contains most of its functional domains. You can learn more about the science behind our ASO therapeutic here.

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What other projects are you involved with?

Our research focuses on hereditary brain disorders such as SCA3 and Huntington’s Disease. These are known as polyglutamine, or polyQ, diseases, as they are both caused by an expanded number of CAG nucleotide repeats in the genetic code. Each CAG repeat codes for an amino acid called glutamine (abbreviated with the letter Q), hence the term polyQ disease. 

At Leiden,I lead the Neuro-D Lab, which conducts research on a wide range of neurodegenerative diseases. Our focus is on better understanding disease pathology and developing novel therapeutics to treat these disorders. 

We also conduct research on a rare disease that has been found to only impact around 150 individuals in the Netherlands and a small population in Perth, Australia. This disease is known as Katwijk Disease, named after the small Dutch fishing village in which it was identified. Katwijk Disease causes amyloid deposits in blood vessels surrounding the brain and can lead to brain hemorrhage. 

Additionally, I co-direct the Dutch Center of RNA Therapeutics as well, which focuses on applying RNA-based therapies for small patient groups affected by hereditary diseases.

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Why did you choose to work with CRD?

The smaller the patient group, the more difficult it is to conduct a traditional clinical trial to test efficacy of a treatment. Therefore, organizations such as CRD are essential to creating a pathway to the clinic for these patients who are small in number.

For patients with ultra- and nano-rare diseases the development of disease modifying treatment is difficult and standard drug development pipelines are not suitable. Working with CRD connects me to like-minded, highly-motivated experts and patients that are willing to push boundaries and explore alternative, safe and fast avenues to help patients with a high unmet medical need.

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Thank you to Dr. van Roon-Mom for sharing the important work she is doing to help those affected by neurodegenerative diseases. Through her unwavering efforts, she is making substantial progress towards developing treatments for patients with rare disorders and we are grateful to partner with her to achieve these goals.