Aims and objectives

The aim of the research is to understand the underlying molecular mechanisms in a broad group of genetic disorders with an ultimate goal of improving diagnosis, genetic counselling and targeted treatment of patients (precision medicine) based on precision diagnosis.

Focus areas

The department is carrying out research in both rare genetic disorders and multifactorial diseases The disease categories include, but not limited to, cancer, disorders of cardiovascular system, disorders of inborn metabolism, eye disorders, hearing impairment, hematologic disorders, imprinting disorders, mitochondrial disorders, neurodevelopmental disorders, and neurological disorders.

The department has a strong profile both within the molecular aspects such as identification of new genes and interpretation of novel variants and using advanced techniques to improve patient care both within diagnosis, prevention, treatment and prognosis and the ethical and psychosocial aspects of genetic medicine including reproductive genetics, genetic screening and the genetic counselling process.

Disciplines, methods and tools

The approach is interdisciplinary and includes the relevant medical specialities for different groups of disorders.

To reach the aim a broad spectrum of omic-methods are employed: genomics (next generation based exome and whole genome sequencing, long-range genomic sequencing, rna sequencing), transcriptomics, epigenomics, metabolomics, cytogenomics, and cellular methods such as iPSC studies.