Dr sc. Daniel Stieber
+352 28 100 438
Integrated into the National Center of Genetics, the platform for molecular biology, bioinformatics and sequencing performs constitutional1 and somatic2 molecular genetics tests.
Integrated into the National Center of Genetics, the platform for molecular biology, bioinformatics and sequencing performs constitutional1 and somatic2 molecular genetics tests. To this end, it develops and implements state of the art molecular methods necessary for the practice of molecular genetics, including high throughput next generation sequencing (NGS) for both diagnostic and research applications.
Bioinformatics is comprised of all the concepts and techniques required for the computerised interpretation and visualisation of biological information. Bioinformatics capabilities are deployed within the platform; those are developed in-house and in collaboration with external partners.
The platform is open to all departments and services of the LNS and to certain external partners, such as the Luxembourg Institute of Health (LIH) and the Luxembourg Centre for Systems Biomedicine (LCSB).
Routine diagnostic activity in the area of constitutional genetics focuses on the genetics of thrombophilia, hereditary haemochromatosis and red blood cell diseases. The platform is a national reference centre for haemoglobinopathies carrying out screening and the molecular genetic characterisation of hereditary diseases associated with haemoglobin such as structural variants and the thalassemias.
Routine diagnostic activities in somatic genetics and molecular pathology are developed and deployed in collaboration with the hemato-oncology unit of the department of genetics (for blood neoplasms) and the Department of Pathology (for solid tumors). This encompasses the molecular characterisation of both solid tumours as well as haemato-oncological diseases, using a complete arsenal of molecular genetic test to interrogate diseases specific diagnostic, prognostic and theranostic markers.
Another area of development is the implementation of liquid biopsies in cancer patients. This involves searching for molecular genetic abnormalities in circulating tumour DNA isolated from the cell free fraction of a patient blood sample. Searching for abnormalities in circulating tumour DNA is an alternative to biopsies. It is less invasive, painless and provides samples from patients for whom a biopsy is not feasible.
1 Constitutional or hereditary genetic tests are based on the study of the genetic heritage of a person, usually from a blood test. They can be carried out before birth (prenatal testing) or afterwards (postnatal testing), at any age.