Research into a Genetic Mutation Has Led to the Discovery of a Rare Disease

A group of researchers led by Professor Gholson Lyon has discovered a genetic mutation that is linked to certain traits, reports Medical Xpress. The method used to discover it was unusual because it identified the gene before the related traits were grouped into a single condition and named.

This new discovery builds on Professor Lyon’s previous work that identified and described Ogden syndrome for the first time. Ogden syndrome is a rare but serious inherited genetic condition that mainly affects boys. Professor Lyon first described it in 2011 and named it after a town in Utah where one family had five sons affected by the disease. The signs of the condition include developmental delays, an irregular heartbeat, neurone loss and damage in the brain, and physical changes such as wrinkled skin, protruding lips, and large eyes. Little is known about the disease due to how rare it is, and many of the boys affected by the disease do not survive past the age of three.

Ogden syndrome develops as a result of a mutation on the gene NAA10. The recently discovered disorder linked to it, currently referred to as ‘NAA15-related disorder’, was identified after a paper was published about a patient with some similar symptoms. The patient is a boy with heart defects, developmental delays, and intellectual disability. These were thought to be caused by a gene called NAA15 that is closely related to NAA10, the one that causes Ogden syndrome. The two genes are closely related because they produce proteins that are involved in the same metabolic processes.

Following this, Lyon et al have been informed of thirty-seven other people with the NAA15 mutation. The large-scale collaboration between doctors and researchers to identify these patients has facilitated Lyon’s research efforts into the disease and helped him to describe it and connect it to the NAA15 mutation.

Lyon says that diseases are typically defined by their symptoms rather than their causes. However, this means that often one condition is used to describe patients who have varied causes leading to their symptoms. This lumping together of patients displaying similar traits can be problematic for healthcare workers trying to treat the conditions, because they actually are the result of different processes. The approach taken by Lyon here is a new method of disease identification that is much more precise and is tailored to each patient.
In addition to identifying a new condition, ‘NAA15-related disorder’, Lyon and his team have led the way in diagnosing patients based on underlying genetic causes, rather than just their symptoms.

Anna Hewitt

Anna Hewitt

Anna is from England and recently finished her undergraduate degree. She has an interest in medicine and enjoys writing. In her spare time she likes to cook, hike, and hang out with cats.

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