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Over onsMedische WetenschappenResearchDepartment of GeneticsResearch Lines
University Medical Center Groningen

Neurogenetics

  • Dr. Dineke Verbeek's group studies the genetics of movement disorders, including spinocerebellar ataxia (SCA) and dystonia. See below.
  • Genetic screening in children with epilepsy Early and broad genetic screening of children with epilepsy using targeted next-generation sequencing. Aiming to improve diagnosis and quality of care. Is part of the ANDDI research programme.

Research work on SCA and dystonia

SCA is a rare diseases with an incidence of 1-3 per 100,000. SCA is a movement disorder and shows a clinically diverse phenotype, including ataxia, dysarthria, nystagmus, and other symptoms. The pathology involves cerebellar atrophy (Purkinje cells). It is a genetically heterogeneous disorder and 41 loci and 27 genes have been recognised as associated with it. However, some 30% of cases do not have a genetic diagnosis. We are:

• Hunting for novel disease genes in movement disorders using NGS techniques and focusing on ataxia and dystonia

• Generating disease models: in vitro and in vivo to unravel underlying disease mechanisms and increase knowledge on molecular mechanisms in various movement disorders

We are using exome sequencing, selected variants and targeted arrays to identify novel SCA genes in families and in single cases to discover key regulators of neurodegeneration.

Students

There are opportunities for MSc students to perform a 6-month research internship and for postdocs who can arrange their own funding via a Marie Cure grant or similar. P lease email Dineke Verbeek to enquire about possibilities.

Publications

Prinses Beatrix Fonds
Prinses Beatrix Fonds
Fonds Nuts OHRA
Fonds Nuts OHRA

Group members

Dineke Verbeek, head of group
Michiel Fokkens
Mirjam Roffel

Corien Verschuuren-Bemelmans

PhD graduates: Esther Nibbeling, Cleo Smeets, Justyna Jezierska, Anna Duarri

Collaborators

  • UMC Utrecht, Department of Genetics, Dennis Dooijes
  • UMC Groningen, Department of Neurology, Marina de Koning-Tijssen, Berry Kremer
  • UMC Nijmegen, Department of Neurology, Bart van de Warrenburg

Laatst gewijzigd:03 januari 2018 15:22