Genetic Diseases
Within the Genetic Diseases program a numer of conditions are studied where the genetics is a critical factor for the development of the disease. Diseases studied with genetic methods include different endocrine diseases, muscle diseases, diseases that effects the embryonic development and different cancers.
Groups
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The overall aim for our research is to identify genetic factors contributing an increased risk of cancer to be able to define risk groups for cancer prevention. We also translated this knowledge in the clinic with genetic counseling, testing and surveillance programs, which we also evaluate.
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We study genetic disorders on a molecular level in order to understand disease mechanisms and apply new knowledge in genetic diagnostics. Our main interests are developmental disorders and malformations in the central nervous system, eczema, inherited immune defects and leukemia.
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Our works aims to identify novel disease genes causing inborn errors of endocrinology and metabolism, and to improve diagnostics and management for affected families.
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We study the molecular background of congenital malformations, especially disorders of sex development (hypospadias) and bladder exstrophy, when the child is born with an open urinary bladder. We also develop a new surgical treatment method for hypospadia patients (Tissue engineering).
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