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
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.
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