Effective 1 March 2021, Lisenka Vissers has been appointed professor of Translational Genomics at Radboud university medical center/Radboud University. Her field of expertise involves the study of DNA errors causing rare genetic diseases. She will develop new methods to identify these and assess how novel technologies allowing their identification should be implemented in the diagnostic care pathway of patients with rare genetic diseases.
Lisenka Vissers will study the causes of rare genetic diseases. A single small error (mutation) in DNA is already able to cause a rare genetic disease. Currently, these errors are found in about 30-40 percent of patients with a rare disease, leaving a majority of patients without a genetic diagnosis. These disease-causing mutations are mainly located in DNA that encodes proteins, but protein-coding regions comprises only 2% of an individual’s entire DNA sequence. The remaining 98% of DNA is not yet systematically examined for disease-causing mutations because there is still too little knowledge about how to recognize them.
Novel -omics technologies
Lisenka Vissers aims to generate this knowledge, using a combination of complementary -omics technologies, such as 'genomics', 'transcriptomics' or 'metabolomics'. These technologies involve large amounts of data sets assessing entire genomes, transcriptomes or metabolomes. Integration of these data sets will finally provide the diagnosis for patients with intellectual disability who currently remain unsolved. The diagnoses will not only lead to new fundamental insights into the genetic causes of intellectual disability, but may also shed more light on the genetic etiology of rare diseases as a whole.
Translation to routine diagnostic care of patients with rare diseases
In addition, Lisenka Vissers will investigate whether the novel -omics technologies have an added value in a routine genetic diagnostic setting. She will not only determine the percentage of extra diagnoses made, but will also study the impact of a diagnosis on clinical-decision making and its socio-economic aspects. This makes it possible to determine which test is best suited to the diagnostic care pathway of the individual patient, taking into account the impact of this pathway on the total healthcare expenditure. Translational Genomics thus forms the link between fundamental scientific research and its daily application in routine genetic diagnostic care.
Continuous improvement of genome analysis
Lisenka Vissers (Vught, 1980) studied (medical) biology in Nijmegen. In 2007, she obtained her doctorate cum laude on translational genetic research based on the first applications of a genome-wide high resolution analysis technique called array CGH (title of thesis: ‘Molecular karyotyping by array CGH: linking gene dosage alterations to disease phenotypes’). This technique allowed the identification of smaller genetic abnormalities than the older techniques. As a result, 20% of patients, whose genetic diagnosis remained elusive for years, could now be diagnosed. In addition, this technology allowed her to detect novel disease genes and syndromes.
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