UCD researchers developing ‘life changing’ treatment for painful skin condition

ireland
Ucd Researchers Developing ‘Life Changing’ Treatment For Painful Skin Condition
Butterfly Skin
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By James Ward, PA

University College Dublin researchers are developing a new therapy which could potentially transform the lives of people with the painful skin disease, EB.

Epidermolysis bullosa, also known as “butterfly skin”, is a severe genetic condition which causes blistering of the skin, affecting one in 18,000 people in Ireland and 500,000 worldwide.

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Scientists at the Dublin college’s Charles Institute of Dermatology are working on a gene-editing system to fix the mutation in the gene that causes butterfly skin.

And a teenage girl with the condition has praised their efforts as “absolutely amazing”.

Professor Wenxin Wang, Liz Collins, Claudia Scanlon, Dr Sinead Hickey (DEBRA Ireland research manager), Sarah Mullins (DEBRA Ireland research officer), Dr Irene Lara-Saez pictured at the UCD Charles Institute of Dermatology
Professor Wenxin Wang, Liz Collins, Claudia Scanlon, Dr Sinead Hickey (DEBRA Ireland research manager), Sarah Mullins (DEBRA Ireland research officer), Dr Irene Lara-Saez pictured at the UCD Charles Institute of Dermatology (Marc O’Sullivan/PA)

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Claudia Scanlon, 17, said their efforts have given her new hope for the future.

“The research that is going on in UCD is absolutely amazing because it is going towards, hopefully, one day finding a cure for patients living with EB and making my quality of life so much better,” she said.

Her mother, Liz, was similarly hopeful.

She said: “This work offers great hope to everyone who lives with EB and their families that at some point in the future, EB will no longer be as life-changing or limiting as it is today.”

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Gene editing can change the DNA of a cell to repair disease-causing mutations.

The latest generation of that technology – CRISPR – has the potential to be effective in treating patients with genetic disorders such as EB.

Claudia suffers with a severe form of the disease, Recessive Dystrophic EB.

With 80 per cent of her body covered in open wounds, she must go through daily bandaging sessions which can last up to three hours.

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The brave teen thanked the researchers for their efforts to search for effective treatments which could be a game changer in the lives of all those who live with EB, and their families.

Mother and daughter were joined by Dr Sinead Hickey, head of research at Debra Ireland, which provides day-to-day help and support for EB patients and their families, as well as campaigning to find better treatments and possible cures for the condition.

Donations to Debra Ireland from big-hearted Late Late Show viewers topped 400,000 euro after Claudia appeared on the show in April with her mother and rugby star, Johnny Sexton.

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Dr Irene Lara-Saez of the UCD Charles Institute of Technology is part of the team of researchers using pioneering technology to develop a new therapy which could potentially transform the lives of people with the painful skin disease, EB
Dr Irene Lara-Saez of the UCD Charles Institute of Technology is part of the team of researchers using pioneering technology to develop a new therapy which could potentially transform the lives of people with the painful skin disease, EB (Marc O’Sullivan/PA)

“It gives our families huge hope to see ongoing research into new treatments, especially for rare diseases, to give people like Claudia a better quality of life,” said Dr Hickey.

“Rare diseases often get overlooked when it comes to development of new treatments and we at Debra Ireland will continue to drive research into EB to improve the lives of those living with the condition.

“The vaccine development for Covid-19 has improved people’s understanding of how treatments for diseases are developed. We hope this will help build support for research into rare diseases going forward.”

One of the researchers in 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 which causes the condition and thereby allow patients to heal.

“We work very closely with Debra Ireland and people with EB to ensure their needs are at the heart of our research,” she said.

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