Research presented in Japan at ISID 2023

The break-through research of our EI Cure Project researchers and their many colleagues was presented at the 1st annual world congress of the International Societies for Investigative Dermatology Meeting held in Tokyo, Japan in May 2023. The researchers gave an oral presentation of their findings to an international audience of doctors, researchers, and scientists. The scientific abstract for their work was published in the Journal of Investigative Dermatology alongside other “Hot-off-the-bench” topics in the field of gene therapy research for dermatological conditions like melanoma, atopic dermatitis, ehlers-danlos syndrome, and epidermolysis bullosa.

You can see the abstract for their work alongside the journal cover below.

Please know that reading this abstract is not easy because we are talking about editing human DNA, and there is an enormous amount of mind-boggling science that comes with this superhuman feat!

For most of us laypeople, the most significant statement for those interested in finding a cure for EI are as follows:

“Our results obtained in primary patient-derived cells…demonstrate restoration of keratin 9 intermediate filament integrity with an excellent safety profile and major therapeutic potential”.

For the likes of you and me, this means that they managed to edit the EI mutation in the DNA of skin cells obtained from a person affected with KRT9 EI with PPK. When they put the modified cells under heat stress (A typical cause of significant trauma to EI skin), the keratin in the skin cells behaved as you would expect to see in a person without EI. The skin cells were observed to behave as though EI had never existed in their DNA. The researchers also checked the DNA of the modified cells to see if any new genetic abnormalities had occurred as a result of the editing procedure. After extensive genetic testing, they found no abnormalities. The skin cells obtained from a person with KRT9 EI with PPK were now completely healthy.

The joint statements of “Excellent safety profile” and “MAJOR THERAPEUTIC POTENTIAL” are the ones that should really grab your attention!

In summary, the researchers have already taken the first step into knowing how to make a cure a reality, they just need the funding to continue their research and turn their technique into a therapeutic product. So please, join us at the very forefront of medical science, and help fund this life-changing research so that everyone with EI can live a happier life with healthy skin.

I’d like to take the opportunity to thank Professor Matthias Schmuth and Dr Julia Reichelt and all their colleagues for sharing their work. We very much hope to be giving them a grant to allow the work to continue very soon.

Thank you for reading.