Families of children with FOXG1 syndromea rare disease of genetic origin that affects chromosome 14q12, have criticized that the Government does not want to consider this pathology as rare, since it has “refused” to open a line of research on the treatment through the Carlos Health Institute III (ISCIIII).
Specifically, as they have reported, the Executive has told them that “it is not feasible to address most of the more than 7,000 rare diseases currently recognized as such, mainly due to the limitation of human and material resources, which makes it only possible to maintain lines with a certain trajectory that allows maintaining the required level of excellence”.
A year ago the parents of these children came together to create the FOXG1 Spain Association and from here, and especially on World Rare Disease Day, they have claimed the right to their children’s disease is recognized and investigated.
FOXG1 syndrome is a rare neurological disorder It greatly affects brain development and causes severe physical and cognitive disabilities. It is a disease caused by a mutation in the FOXG1 gene, which is one of the main genes in brain development in the embryonic stages.
FOXG1 syndrome is typically a ‘de novo’ mutation (spontaneous, not inherited), with multiple variants that affect people differently along the spectrum of severity. Most children born with this pathology are non-verbal, have severe physical and cognitive disabilities, experience intractable seizures, respiratory distress, impaired cortical vision, feeding difficulties, reflux, or movement disorders.
Known as ‘Brain factor 1’, FOXG1 is a transcription factor gene that creates the protein needed to ‘turn on’ many other genes. Scientists have found significant links between FOXG1 and major brain disorders such as he autismepilepsy, the Alzheimer’sschizophrenia or brain cancers. Research on FOXG1 may also help address these brain disorders that affect millions of people around the world.