31-Oct-2024
Researchers solve medical mystery of neurological symptoms in kids
WashU MedicinePeer-Reviewed Publication
Researchers at WashU Medicine collaborated with an international team of doctors and scientists to identify the cause of a rare disorder involving intellectual disability and brain malformations. The team found a link between the child’s neurological symptoms and a genetic change that affects how proteins are properly folded within cells, providing the parents with a molecular diagnosis and identifying an entirely new type of genetic disorder.
- Journal
- Science
- Funder
- National Institute of Child Health and Human Development, NIH/National Institutes of Health, Children's Discovery Institute, Italian Ministry of Health, Canadian Institutes of Health Research, Transnational Team Grant, Network Grant OR2-189333, Canada Foundation for Innovation, Canada Research Chairs, European Commission, Canada Research Coordinating Committee, Canada First Research Excellence Fund, CIHR Postdoctoral fellowship, German Research Foundation, Deutsche Forschungsgemeinschaft, Ministerium für Kultur und Wissenschaft des Landes Nordrhein-Westfalen, Der Regierende Bürgermeister von Berlin, Senatskanzlei Wissenschaft und Forschung, Hereditary Disease Foundation, longer Consortium, Horizon 2020 Framework Programme