The disease which is so new that it has yet to been given a name, causes some children’s brains to develop abnormally.
The result is delayed intellectual development which can cause severe learning difficulties and significantly affect a child’s quality of life.
This has shown to be the case with the majority of patients the disease has been identified in.
The disease is caused by a protein coding gene known as Glutamate Ionotropic Receptor AMPA Type Subunit 1 (GRIA1).
GRIA1 helps to send electrical signals around the brain, but if the process is interrupted or hindered, it can spark a reduction in the brain’s capacity to retain information.
To find out more about the disease, a research team mimicked the gene in tadpoles to indicate that changes are the underlying cause of the disease. T
The researchers alos conducted a biochemical analysis of the variants in frog oocytes.
The international team was made up of researchers from the universities of Portsmouth, Southampton and Copenhagen.
Professor Matt Guille, one of the co-authors from the University of Portsmouth, said: “Next-generation DNA sequencing is transforming our ability to make new diagnoses and discover new genetic causes of rare disorders.
“The main bottleneck in providing diagnoses for these patients is linking a change discovered in their genome firmly to their disease. Making the suspect genetic change in tadpoles allows us to test whether it causes the same illness in humans.
“The resulting data allow us to support our colleagues in providing the more timely, accurate diagnosis that patients and their families so desperately need.”
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