the glocalized network in theragenomic and personalized medicine and the genetics of individual patients safety of drugs
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 »