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Researchers at University College Dublin are developing a new therapy that could potentially transform the lives of people with the painful skin disease, EB.
Epidermolysis bullosa, also known as ‘butterfly skin’, is a serious genetic disease that causes blisters on the skin, affecting one in 18,000 people in Ireland and 500,000 worldwide.
Scientists at Dublin College’s Charles Institute of Dermatology are working on a gene-editing system to correct the mutation in the gene that causes butterfly skin.
And a teenage girl with the disease hailed their efforts as “absolutely amazing.”
Claudia Scanlon, 17, said their efforts gave her new hope for the future.
“The current research on UCD is absolutely amazing because it is hopefully aimed at one day finding a cure for patients living with EB and improving my quality of life,” she said.
Her mother, Liz, was equally optimistic.
She said: “This work offers great hope to all those living with EB and their families that at some point in the future EB will no longer be life changing or limiting today. hui. “
Editing genes can alter a cell’s DNA to repair disease-causing mutations.
The latest generation of this technology – CRISPR – has the potential to be effective in treating patients with genetic disorders such as EB.
Claudia suffers from a severe form of the disease, dystrophic recessive EB.
With 80% of her body covered with open wounds, she has to undergo daily bandaging sessions that can last up to three hours.
The courageous teenager thanked researchers for their efforts in finding effective treatments that could be a game-changer in the lives of all those living with EB and their families.
The mother and daughter were joined by Dr Sinead Hickey, Head of Research at Debra Ireland, who provides daily help and support to EB patients and their families, as well as campaigns to find better possible treatments and cures for the disease.
Donations to Debra Ireland from big-hearted viewers of The Late Late Show surpassed 400,000 euros after Claudia appeared on the show in April with her mother and rugby star Johnny Sexton.
“It gives our families immense hope that research is being done into new treatments, especially for rare diseases, to give people like Claudia a better quality of life,” said Dr Hickey.
“Rare diseases are often overlooked when it comes to developing new treatments and at Debra Ireland we will continue to conduct EB research to improve the lives of people living with the disease.
“The development of a vaccine for Covid-19 has improved people’s understanding of how treatments for diseases are developed. We hope this will help strengthen support for rare disease research in the future. “
One of the researchers at the UCD Charles Institute of Dermatology, Dr Irene Lara-Saez, explained that their work focused on finding “smart scissors” that would cut the damaged gene causing the disease and allow thus to the patients to be cured.
“We are working closely with Debra Ireland and people with EB to make sure their needs are at the heart of our research,” she said.
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