Orphan diseases and their genetic background
Orphan diseases are rare and often complex disorders, which bring a lot of difficulties to patients, their families, the medical doctors and care givers. In some of them, there is only little knowledge about the clinical symptoms, which is responsible, that diagnoses are made very late. In other cases, diagnosis is suspected, but it is difficult to prove it, because the needed special investigations are not offered everywhere. Another group of diseases allows a diagnosis, but not much is known about the management and therapy, the patients daily life and that of his family. Specialized in laboratory medicine and human genetics, the selective screening for lysosomal diseases, such as mucopolysaccharidoses, disturbances in the metabolism of sialic acids and oligosaccharides is provided. Also working in the genetic counselling team, questions concerning genetic risks, carrier status or prenatal diagnosis of the patients and family members can be answered. Close connections to self help groups are kept. Nevertheless, many still open questions on glycosaminoglycans in different organs and their (patho-) physiology open a wide research field, such as recent studies in brain development in mice under different conditions.