Genetic basis of neurodevelopmental disorders
Neurodevelopmental disorders (NDDs) manifest mostly as developmental delay in early childhood and lead to intellectual disability later in life. Some 2-3% of the population is affected. NDDs are a significant burden to affected individuals and their families and a major unsolved medical challenge. In the majority of cases single gene defects are thought to be the underlying cause. Scientific advances during the last years have allowed identifying such a genetic defect in about half of all cases. By now, more than 1,500 causative genes have been identified. Research groups at the Institute have made important contributions to these advancements and identified several such genes and characterized the associated syndromes. Read more
Genetics of different psoriatic manifestations
Psoriasis is a chronic inflammatory skin disorder that belongs to the auto-inflammatory diseases. Clinically, psoriasis is characterized by various manifestations. The most common forms are psoriasis vulgaris (also known as plaque psoriasis), prevalent in 2-4% of northern European, as well as psoriasis-arthritis , diagnosed in 20-30% of psoriasis vulgaris patients due to a certain involvement of joints. In addition, there are several other rarer psoriatic manifestations, such as generalized pustular psoriasis, SAPHO syndrome and palmoplantar pustular psoriasis, which differ clinically and genetically. Read more
Glaucomas represent a heterogeneous group of eye disorders characterized by irreversible damage of the optic nerve and usually elevated intraocular pressure, leading to vision loss and ultimately, if untreated, to blindness. Genetic factors are considered to play a key role in all major forms of glaucoma. Clinically and etiologically congenital glaucomas are differentiated from glaucoma manifesting in early or late adulthood. Finally, pseudoexfoliation glaucoma is a common form of secondary glaucoma manifesting at an advanced age. Research projects at the institute deal with all forms aiming mainly at the identification of the underlying genetic defects and mechanisms.
Genetics of Familial Cancer
Some 5 -10% of cancer patients are affected by a familiar form of the disease. These are often caused by mutations in cancer susceptibility genes, either inherited or occurring de novo. At the Institute we closely collaborate with several oncology clinics on campus, the Pathology Institute as well as several regional clinics and offer genetic counselling and testing to individuals at risk. In certain cases without a known cause we apply our expertise in high-throughput mutation detection to identify novel disease associated genes and correlate genetic variants identified with clinical manifestation. Read more
Work in this group is concerned with the molecular and cellular processes underlying normal and defective cell differentiation by applying a wide range of experimental approaches. Read more