UNIQUE, center for ASD with a rare genetic origin

Autism spectrum disorder

People with autism spectrum disorders (ASD) often experience social difficulties and may show restrictive and repetitive behaviors and interests. Next to these ‘core features’, they may experience other psychological difficulties as well. We now know that hundreds of genes are involved in ASD. However, the complex relationship between the genes and behavior is still poorly understood.

The UNIQUE study

Within UNIQUE, science and healthcare come together. We see children and adults with ASD and rare genetic variants and try to gather as much information about them as possible. By doing this, we hope to increase our knowledge on ASD with a rare genetic origin. This will lead to increased understanding of the relationship of the genes on behavior and, ultimately, lead to improved person-centered healthcare for this population.

What do we do?

During a research visit we make a 3D photo of the head, draw a blood sample, measure brain activity and visual attention during computer tasks and measure pupil responses. Next, we also collect data that has been gathered during regular care. If this data has not been collected yet, we collect it ourselves during a study visit.

Genetic underpinnings of ASD

By grouping individuals with similar genetic variants, we hope to get a better understanding of the genotype-phenotype relationship of ASD. For example, are genes in pathway X associated with sensory processing issues, while genes in pathway Y are linked with reduced cognitive flexibility.

National biobank of ASD with a rare genetic origin

We collect human material and store this in the central biobank of the Erasmus MC. Over the years, we hope to collect enough data so that we may provide new patients with better outcome predictions based on individuals included in our biobank. This way, we aim to become an expertise center for ASD with a rare genetic origin.

• Erasmus MC fellowship (awarded to Sabine Mous)
• Sophia Children’s Hospital Fund

Collaborations within Erasmus MC

• Department of Clinical Genetics

Rosan Lechner, MD (Coordinating Investigator)

Principal Investigators

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  S.E. (Sabine) Herrman-Mous, PhD

  Assistant professor & Healthcare Psychologist (in training as Clinical Neuropsychologist)

• 

  Dr. G.C. (Gwen) Dieleman

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  Y. (Ype) Elgersma, Professor

  Principle Investigator, Vice-chair and sector head of Research of the dept. of Clinical Genetics

Project Leaders

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  K.R. (Kamil) Hiralal, PhD Student

  PhD-student