Exeter, Devon UK • Dec 5, 2023 • VOL XII

Exeter, Devon UK • [date-today] • VOL XII
Home ScienceHealth The EB and Flow of Skin Condition Treatment.

The EB and Flow of Skin Condition Treatment.

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Skin as delicate as a butterfly’s wing – this is how patients with epidermolysis bullosa (EB) are often described. The condition causes skin to blister and tear painfully in response to the lightest touch – even the touch of light clothing can be enough.

EB is a genetic condition that occurs due to an absence of a protein that holds the different layers of the skin together.

It can be a life-limiting disease, with over 40% of patients not surviving to their teen years. This can be due to infection, as the body is covered in open wounds, or the increased risk of skin cancers.

Two feet heavily affected by the disease

Epidermolysis bullosa.

But an incredible case from Germany is providing hope to the estimated 500,000 sufferers of the disease across the world.

A 7 year old boy has just received the world’s first genetically modified skin graft to treat his condition.

Hassan has particularly severe form of EB, and many treatments have been tried, and unfortunately been unsuccessful, over the years. These included getting a skin graft from his father, which his immune system rejected, as well as constant maintenance with burns dressings, antibiotics and ointments. In 2015, when the treatment took place, over 60% of his body was covered in open wounds.

When researchers from the University of Modena and Reggio Emilia were given permission from his parents to perform the experimental treatment, they gave Hassan a 50% chance of success.

it shows a huge advance in the technologies and research behind gene therapy

As EB is caused by a fault in a gene called LAMB3, they had to introduce a working copy of the gene into Hassan’s skin cells. This was done by adding the working LAMB3 gene into a modified virus (so that it wouldn’t cause any disease itself).

Viruses are incredible at passing into cells and delivering their genes to target cells, so using them in gene therapy allows us to harness this ability, which has evolved over millions of years. Conveniently, there are viruses capable of infecting all known species of life, giving us a tool already designed to alter specific traits.

In recent years, we have developed effective ways of editing viruses to add in genes that we want to use, and remove some of their genes which are known to cause disease.

There are other forms of gene therapy, such as CRISPR, which are all exciting potential treatments for a whole range of diseases, including HIV and cancers.

A cartoon of a gene in a therapists chair.

Gene Therapy. Source: AP-BIO-Cartoons from beauchemin.com

The specific technique used to treat Hassan’s EB could be life-changing for many people, such as those with severe burn wounds or victims of acid attacks. At the moment, they have similar risks as patients with EB – especially the high risk of infection, pain and disfigurement. But by grafting large amounts of their own skin back onto their bodies, these symptoms could be alleviated.

Not only does this vastly improve their quality (and potentially length) of life, but it could also reduce the long term costs of treating them in the current way, as antibiotics and specialist dressings are not cheap.

Two years on from Hassan’s three operations, he has been given a new lease of life. The new skin, which covers 80% of his body, shows no signs of blistering, so much so that he is now able to play football with his friends for the first time.

This is just the first case of such a treatment, so now clinical trials are beginning to see how it work with other forms of EB.

Although it isn’t a currently available therapy, it shows a huge advance in the technologies and research behind gene therapy, and provides hope for many patients who may benefit from it in the future.

To read more about gene therapy or enhancements take a look at this link where Ruth Braham talks intelligenese, genetic intelligence and enhancements!

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