25 June 2025 – Human developmental microcephaly is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often …
Genetic Causes of Microcephaly and Neuronal Development Read more »
Juni 13, 2025 – Dystrophic EB can be either dominantly or recessively inherited and involves defects in Type VII collagen. Blisters occur within the lower layer of skin, the dermis. There are two main subtypes, dominant DEB (DDEB) and recessive …
Recessive Dystrophic Epidermolysis Bullosa (RDEB) Read more »
March 25, 2025 – There are more than 10’000 rare genetic diseases, of which about three-quarters affect children. Overall, rare diseases are becoming increasingly common, affecting about 300 million people globally. One in three children with a rare disease will …
Do global efforts enhance clinical care for children with rare genetic diseases? Read more »
November 27, 2022 – About 3.5–5.9% of the world population are affected by a rare diseases. For Africa alone, this winds up to around 50 million possibly affected people, representing a large community of individuals and families in need of diagnostics …
Including Africa in the research on rare genetic diseases: A must! Read more »
June 07, 2020 – Most children with rare genetic diseases spend years undergoing medical tests and waiting for a diagnosis—a long, exhausting process that takes its toll on children and their families. Almost half of these children never get a …
Diagnoses for children with rare genetic diseases by 3-D facial scans Read more »
January 08, 2019 – The interpretation of genetic variants after genome-wide analysis is complex in a selection of heterogeneous disorders which are at the base of a condition termed intellectual disability (ID). Generally, the cause of intellectual disability (ID) is unknown …
You cannot hide it: Your face tells all about your ID Read more »
November 17, 2017 – The American Food & Drug Administration (FDA) just approved Vestronidase alfa-vjb (Mepsevii), the first treatment for pediatric and adult patients with the inherited metabolic condition called mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome. MPS VII …
Treatment for the rare genetic disorder MPS VII approved Read more »