Since 2014, I have been working as a neuromuscular neurologist and researcher at UMC Utrecht, with a particular focus on motor neuron diseases such as ALS and related conditions (ALS mimics). I completed my neurology training and doctoral research at UMC Utrecht, earning my PhD cum laude in 2010 for work on the genetic underpinnings of ALS. Following this, I pursued a postdoctoral fellowship at UC San Diego, where I studied repeat expansion diseases. I obtained my medical degree from Utrecht University, including clinical rotations in South Africa (Stellenbosch University and Pretoria University).

Research Interests

My scientific work primarily focuses on ALS, aiming to identify new genetic risk factors and modifiers of disease progression. To achieve this, I use diverse methodologies, including:

• Genome-wide association studies (GWAS)
• Classical family-based genetic approaches
• Whole-exome and whole-genome sequencing

Additionally, I study cognitive and behavioral disorders associated with ALS and contribute to clinical trials.

Clinical Expertise

At the Neuromuscular Diseases outpatient clinic, I focus on the diagnosis and treatment of motor neuron diseases, including ALS, ALS with frontotemporal dementia, PSMA, and PLS. Approximately half of the patients referred to us with suspected ALS are ultimately diagnosed with other conditions. I continue to manage care for some of these patients, who represent a diverse group with conditions such as:

• Multifocal motor neuropathy (MMN)
• Chronic inflammatory demyelinating polyneuropathy (CIDP)
• Inclusion body myositis (IBM)
• Myasthenia gravis
• Hereditary spastic paraplegia (HSP)
• Kennedy’s disease

I have a special interest in genetic diagnostics for neuromuscular disorders. Together with Dr. E.H. Brilstra (clinical geneticist), I co-lead a multidisciplinary consultation team, ensuring comprehensive care for patients with genetic neuromuscular conditions.