This content is machine translated Rare diseases Fanconi-Bickel syndrome Fanconi-Bickel syndrome (FBS) occurs due to variants in the SLC2A2 gene. The diagnosis of a rare genetic disease can take up to 5-6 years, even longer in low and middle…
View Post 5 min This content is machine translated Rare diseases Donnai-Barrow syndrome This very rare syndrome is caused by mutations in the LRP2 gene, which codes for megalin, and is inherited in an autosomal recessive manner. It is characterized by craniofacial features…
View Post 6 min This content is machine translated Birt-Hogg-Dubé syndrome Fibrofolliculomas as indicator lesions The vast majority of patients affected by this rare hereditary tumor syndrome develop numerous fibrofolliculomas in middle age, particularly on the face and upper body. Genetic testing is required to…
View Post 3 min This content is machine translated Guest article by the Foundation for People with Rare Diseases The increasing importance of genetics in medicine In medicine, one must think of the possibility of a genetic effect. Familiarity may be indicative, but genetic diseases also occur sporadically. With state-of-the-art high-throughput sequencing, diagnoses can now be…
View Post 3 min This content is machine translated Drugs for rare diseases Working together to improve care with sense and understanding There is something cynical about the fact that although orphan drugs (OD) are now available for some rare diseases, they are so expensive that the treating physician hardly knows how…
View Post 3 min This content is machine translated National Concept Rare Diseases Breathing life into a concept The “National Concept for Rare Diseases” from the FOPH has been available since September 2014. This is a milestone in view of the great challenges and everyday situations of those…
View Post 2 min This content is machine translated New interdisciplinary consultation hour at UKBB Interdisciplinary against complex diseases Parents of children with a complex medical condition face significant challenges in their daily lives. The relief is all the greater when they do not have to attend many individual…
