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World-leading research into rare skin disease provides hope to Kiwis who have rare condition

There's hope world leading research being done into editing and growing skin cells will be life changing for Kiwis living with a rare but debilitating skin disease.

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The debilitating disorder results in delicate skin that blisters and tears easily. Source: 1 NEWS

The disorder called Epidermolysis Bullosa, EB for short, results in delicate skin that blisters and tears easily, resulting in huge healthcare costs and early mortality.

"Essentially it's caused by a gene that's broken, that is the glue that holds the skin cells together," said Auckland University's Dr Hillary Sheppard.

Humphrey Hanley, 38, lives with the disease.

"Your skin is nailed down and stuck on properly but mine's held down with a buttery paste so any friction, any knocks bumps.. say I open my car door, or my dog pulls too hard on the lead, or I bump my hand opening the fridge, will cause a blister or will sheer my skin right off like gladwrap,” he told 1 NEWS.

"Over the years that's resulted in my fingers getting scarred up," he said.

Up to 200 people nationwide live with the disease, and in some cases the condition affects internal mucous membranes, particularly inside the mouth and throat, and can result in early death.

It’s not just humans that suffer from EB, baby southern white rhino Zhara, who was born at Hamilton Zoo this year, was born with the condition.

There's no cure or treatment,

"It's really just palliative care... they're looking having their wounds dressed daily... we're also talking about symptoms of pain and itch so it's trying to control those symptoms," Sheppard said.

But Hanley, who spends four to six hours a day changing bandages and cleaning wounds, is excited to hear about research progress being made at Auckland University.

"Essentially what we're trying to do is take the cells and fix the broken gene with a form of gene editing called CRISPR," said Sheppard.

"The work in our lab is heading towards a therapy that will allow us to grow sheets of skin specific for an individual patient that will allow us to cover problematic areas."

"We're looking to take a 1cm squared, so really small piece of skin, get the cells out of that, expand those cells up so eventually we can make enough skin to cover their entire body,” Dr Vaughan Feisst said.

The cells multiplied using a special media, that's essentially their food.

"It's a secret recipe... the main things are sugars amino acids,", Feisst said.

Feisst has been working on growing skin cells for a number of years now, with a focus on burns patients.

The aim was to remove the need for multiple rounds of skin grafting, aiding quicker recoveries.

"It would have helped [Whakaari White Island] patients," he said.

He says they soon released the technology they'd created was useful for other patients too.

With the EB patient research, work has been successful in editing skin cells taken from a first patient.

The team are now set to begin working with skin from another three patients.

"Each patient has a specific individual mutation so it's a type of personalised medicine," said Sheppard.

“The one we are working with currently has a mutation in the collagen 7 gene which affects the “Velcro” or connective tissue within the layers of the skin,” she said.

She says work over the past 16 months has shown the team can achieve clinically useful levels of gene editing, a technique that might eventually be used for other conditions.

Scientists are encouraging more discussion and debate about gene editing, by the public.

"Some people might find gene editing controversial, but what we're dealing with here, we're taking cells from fully informed and consented adults and the changes we make won't be inherited," Sheppard said.

Hanley says he's excited about the progress being made.

"I just want to say thank you, to the people up there in Auckland doing this amazing research."

"Sign me up,” he added.

This week marks international EB awareness week and DEBRA NZ, the organisation which advocates on behalf of people with EB, is hoping to raise the profile of a condition very few people have heard of.

"People like me are in your community, in your world," Hanley said. "Most of us are pretty recognisable by the scarring and the lack of fingers and fragile skin, but it does come in a lot of different forms and a lot of people live with it day to day."

"The most important thing is for people to be aware and be cognisant of the fact that different people have different needs and we've got to do what can to have an inclusive society."