This uncommon genetic disease was found to be caused by variations in the protein-coding gene Glutamate Ionotropic Receptor AMPA Type Subunit 1.

Scientists Discover a New Horrifying Genetic Disease

A new genetic disease that causes some children’s brains to grow abnormally and postpone intellectual development has been discovered by scientists. The majority of people with the disease, which is still so new that it lacks a name, struggle with significant learning challenges that have a negative impact on their quality of life. The discovery of the variant will help doctors in developing focused treatments to help patients and their families and will pave the way for screening and prenatal diagnosis. The GRIA1 gene facilitates the movement of electrical impulses inside the brain. The brain’s ability to remember information may be hampered if this process is interfered with or if it is rendered less efficient.

To demonstrate that GRIA1 mutations are the fundamental cause of the behavior-altering disease, the study team—which consists of frog geneticists, biochemists, and clinical geneticists—used tadpoles in which the human gene variations were replicated via gene editing. The biochemical analysis of the variants was also carried out in frog oocytes.The resulting data allow us to support our colleagues in providing the more timely, accurate diagnosis that patients and their families so desperately need.” Co-author Dr. Annie Goodwin, a Research Fellow at the University of Portsmouth who performed much of the study, said: “This was a transformational piece of work for us; the ability to analyze human-like behaviors in tadpoles with sufficient accuracy to detect genetic disease-linked changes opens the opportunity to help identify a huge range of diseases. This is particularly important given that so many neurodevelopmental diseases are currently undiagnosed.”

Co-author Professor Diana Baralle, Professor of Genomic Medicine and Associate Dean (Research) in the Faculty of Medicine at the University of Southampton added: “Discovering these new causes for genetic disorders ends our patients’ diagnostic odyssey and this has been made possible by collaborative interdisciplinary working across universities.” One in 17 people will suffer from a rare disease at some time in their lives. Most of these rare diseases have a genetic cause and often affect children, but proving which gene change causes disease is a huge challenge.

Source: This news is originally published by scitechdaily

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