Scientists Discover Terrible New Genetic Disease
This uncommon genetic disease was found to be caused by variations in the gene encoding the Glutamate Ionotropic Receptor AMPA Type 1 Subunit protein. A new genetic disease slows children’s brain development. A new genetic disease that causes the brains of some children to grow abnormally and delay intellectual development has been discovered by scientists. Most people with this disease, which is still so new that it doesn’t have a name, struggle with significant learning challenges that negatively impact their quality of life. Changes in the gene coding for a protein known as Glutamate Ionotropic Receptor AMPA Type Subunit 1 (GRIA1) is the underlying cause of this unusual genetic disorder, according to an international team of researchers from the universities of Portsmouth, Southampton and Copenhagen. Variant discovery will assist clinicians in developing focused treatments to assist patients and their families and will pave the way for prenatal screening and diagnosis. Th...
