A Manchester-led team has made a breakthrough in their study of a rare genetic condition.
The Manchester University NHS Foundation Trust team has proved that Perrault syndrome – which causes deafness and learning difficulties, as well as early menopause in women – is linked to changes in two specific genes.
This means that doctors will be able to diagnose the condition faster and more accurately.
Sam, 56, who has the condition, said: “I struggled for years not knowing what was wrong with me.
“When I was diagnosed, I was pleased as it helped me make sense of my symptoms and better understand Perrault syndrome.”
Due to Perrault syndrome’s rarity, Sam was under the care of several different hospitals while they tried to make a diagnosis, which didn’t come until she was 28.
Sam believes that the new research will help prevent this happening to others.
Early, accurate diagnosis is especially important for Perrault syndrome, as the earlier the symptoms are caught, the better hearing outcomes a person has.
But until this new breakthrough the disorder could only be diagnosed genetically in around half of all sufferers, and was difficult to detect in family members, according to researcher Professor Bill Newman, who co-led the research alongside his University of Manchester colleague Professor Ray O’Keefe.
Professor Newman said: “Finding the causes of rare conditions like Perrault syndrome are the first steps in understanding why people are affected, providing clearer diagnosis, and developing novel treatments.”
Professor O’Keefe added: “Genetic testing removes the need for unnecessary investigations, allows closer monitoring to spot problems earlier and enables accurate genetic counselling for other family members who may be at risk.”
As many of the most common symptoms – lack of periods, smaller ovaries – only affect women, doctors have also traditionally struggled to diagnose Perrault syndrome in men.
Dr Ralph Holme, Director of Research at the The Royal National Institute for Deaf people – which supported the research – believes the team’s breakthrough will reduce this inequality, as genetic testing provides accurate results regardless of the sufferer’s sex.
He said: “As ovarian problems are a key feature of the diagnosis, men are rarely diagnosed even though they have the same risk of being affected.”
This could lead to permanently better hearing for male children in cases where Perrault syndrome is diagnosed early.
Professor Newman also stated they have been able to use skin cells from affected individuals to grow new hearing-nerve cells, suggesting sophisticated new treatments.
The full research, including both recently published papers, is available to read in the American Journal of Human Genetics.
Feature image: Professor Bill Newman
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