BENEFITING: National Fragile X Foundation
EVENT DATE: Sep 17, 2016
Brooke Stack wrote -
Fragile X (FX) is the most common genetic cause of intellectual disability linked to autism. It is both rare and common. About 100,000 children are diagnosed with FX each year. This qualifies it as a rare disease. FX impairs learning, intelligence and behavior in a variety of ways, sometimes significantly. There are also over 1.3 million adults who carry the FX mutation, many having no symptoms at all, but some experience increased anxiety, depression, infertility, early menopause or a devastating neurodegenerative condition that suddenly appears out of nowhere later in life. Regardless of symptoms, carriers can unknowingly pass FX to their children.
New research has also linked FX to Parkinson’s disease, Alzheimer’s, schizophrenia, bipolar disorder, clinical depression and more. As a result, the Fragile X protein is now being recognized as a kind of “master controller” gene and protein, which regulates communications between neurons in the brain. When such basic communications are altered, so too is normal brain function. Despite the new research and the severe consequences, the funding has been slow to follow. When research into one gene, which must now be characterized as one of the most important genes in the genome, and its associated protein can shed light on the cause and possible treatments for numerous medical diseases and disorders, we must act. Our funding towards FX research not only supports children and their families affected by Fragile X, but our funding of FX research could one day impact millions of people around the world!