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 »