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In current genome diagnostics we are not always able to provide a molecular diagnosis for patients with diseases for which an underlying genetic cause is suspected. It is therefore important to keep developing and testing new methods and technologies and to continually improve existing genome diagnostics techniques to increase diagnostic yield and improve efficiency.

To improve genome diagnostics, we work in close collaboration with the research, bioinformatic and clinical sections of the Genetics Department.

Our current work includes:

  • Testing and implementing novel sequencing technologies (e.g. Optical Genome Mapping and Nanopore sequencing)
  • Non-invasive prenatal diagnostics: DNA testing on foetal cells from the cervix (DTECC)
  • Increasing diagnostic yield for model diseases (e.g. spinocerebellar ataxia or hypoplastic left heart syndrome)
  • Setting up and designing functional studies (e.g. minigene splicing assays, RNA sequencing, CIMRA)
  • Student projects for Bachelor’s or Master’s students that focus on unsolved cases
Relevance

How our research benefits to society

The different development and innovation projects in our group are focussed on improving genome diagnostics by applying cutting-edge technologies.

  • Testing and implementing long-read sequencing technologies.
    Using biomaterial from patients seen in the clinic, for example spinocerebellar ataxia, hypoplastic left heart syndrome or leukaemia patients, we test and implement new technologies for diagnostics. For example, we are now testing new novel long-read sequencing technologies (Bionano and Nanopore sequencing) that will allow us to find more causal genetic variations and provide more patients with a genetic diagnosis.
  • Prenatal diagnostics: DNA testing on foetal cells from the cervix (DTECC).
    Prenatal genetic testing for genetic birth defects is currently performed on foetal samples obtained by chorionic villous sampling or amniocentesis, both invasive procedures with a 0.2–0.3% miscarriage risk. We have developed a less invasive in vitro method to collect foetal cells from a cervical swab. This novel method makes use of the principle that foetal trophoblast-like cells are naturally shed from the placenta into the reproductive tract and can be collected by endocervical sampling as early as 5 weeks of gestation. This method, called DTECC (DNA Testing on fetal Cells from the Cervix), has the potential to provide sufficient DNA of high purity to allow all genetic diagnostic testing in a non-invasive manner without miscarriage risk.

Contact

Small profile photo of C. van Diemen
Cleo van Diemen Teamleader

Department of Genetics
Genome diagnostics, Development and innovation
University Medical Centre Groningen
Antonius Deusinglaan 1
9713 AV Groningen, The Netherlands

Visiting address
Department of Genetics
Genome diagnostics, Development and innovation
University Medical Centre Groningen
Medical Faculty building (building 3211), 5th floor
Antonius Deusinglaan 1
9713 AV Groningen, The Netherlands