EI Cure Project

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EI Cure Project

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Global not-for-profit which funds research to find a cure for Epidermolytic Ichthyosis (EI)

05/10/2026

Well EADV, that was really something…a great congress AND a stunning location!

I got to work on these key obsessions: genetic skin diseases and beautiful architecture…

Perhaps someone can tell me why am I so drawn to archways, windows, and doors?

The congress had so many great speakers, and I gladly got to work through a list of the names that are so important to us: Veronica Kinsler, Eli Sprecher, Antonio Torello, John McGrath, Cristina Has, Christine Bodemer, Lisa Weibel, Aleksandra Lesiak, and many more.

Progress is also being made for patient organisations and advocacy, but there’s still more work to be done there. Great talks by our leaders in advocacy International Alliance of Dermatology Patient Organizations - GlobalSkin and Skin at School by Jolien Van Der Geugten-De Lang

Somehow EADV - European Academy of Dermatology and Venereology hasn’t fully opened the door for patient orgs just yet - no access to industry areas and symposia, and a dedicated area to visit us in the basement, near the toilets…

But I have faith that this will change in time! Patient orgs serve an essential role in so many aspects of care - but clinical trials, especially in rare diseases, really rely on patient-centred design to help them succeed.

Working together is better for everyone!

Huge thanks to the organisers, and to the outgoing president Branka Marinovic for helping us to get our foot firmly in the door!

I look forward to EADV Amsterdam 2027 ❤️

01/10/2026

EADV Congress in BEAUTIFUL Vienna!

This has to be the biggest Dermatology conference in the world - it’s overwhelmingly massive - with an underwhelming number of rare disease talks…

But, the big guns are all here! Fabulous talks today on Pediatric Dermatology and Genetic Diseases by Professor Cristina Has, Professor John McGrath, Professor Christine Bodemer, and Professor Veronica Kinsler.

The amount of respect in the room for these rock stars of genetic skin diseases is almost palpable.

Thanks to them, we are always on the agenda at these events, with around 500 delegates in the room - there is nothing rare about that!

Huge thanks to all of them for always pushing the Ichthyosis and EDD agenda, and for the fact they always look genuinely happy to see me and my EI Cure logo!

Looking forward to more big names tomorrow…

19/09/2026

It’s such a pleasure to introduce you to James Williamson, a PhD candidate funded by the Rosetrees Trust and EI Cure Project.

James is a brilliant young researcher who’s exploring gene-editing for Epidermolytic Ichthyosis under the supervision of Dr Joanna Jacków and Professor John McGrath at King’s College London, UK.

In this short video, James explains why the KCL team are using new technology, called Base-Editing instead of better-known CRISPR to find a gene-editing solution for EI.

James tells us that they hope to prove that base-editing is not only safer, but a more accessible approach to treating multiple EI-causing genetic variants, when compared to better known CRISPR technology.

The team have already seen good results in early clinical trials with EB using the same technique, so they hope to have the same success with EI 🦋

Please visit our research pages to learn more about James’ research:
https://www.eicureproject.com/our-research/joanna-jackow-malinowska-and-john-mcgrath

Not only is James a brilliant scientist, but he’s also an altogether lovely fellow, who’s determined to make a difference for our community.

Many thanks to James, Joanna, and John for everything they’re doing to make our lives better in the future, our community is so grateful for your work ☺️

19/09/2026

It’s such a pleasure to introduce you to James Williamson, a PhD candidate funded by the Rosetrees Trust and EI Cure Project.

James is a brilliant young researcher who’s exploring gene-editing for Epidermolytic Ichthyosis under the supervision of Dr Joanna Jacków and Professor John McGrath at King’s College London, UK.

In this short video, James explains why the KCL team are using new technology, called Base-Editing instead of better-known CRISPR to find a gene-editing solution for EI.

James tells us that they hope to prove that base-editing is not only safer, but a more accessible approach to treating multiple EI-causing genetic variants, when compared to better known CRISPR technology.

The team have already seen good results in early clinical trials with EB using the same technique, so they hope to have the same success with EI 🦋

Please visit our research pages to learn more about James’ research (“Our Research”🔗in bio):
https://www.eicureproject.com/our-research/joanna-jackow-malinowska-and-john-mcgrath

Not only is James a brilliant scientist, but he’s also an altogether lovely fellow, who’s determined to make a difference for our community.

Many thanks to James, Joanna, and John for everything they’re doing to make our lives better in the future, our community is so grateful for your work ☺️

05/09/2026

With lots of kiddos returning to school this week and next, I thought I’d share an insight into our preparation for the new school year…

For the most part Arienne doesn’t need additional support at school with her regular skin care routine, we spend 2 hours each day making sure she’s comfortable enough to go to school.

However, when she’s at school, she needs help with three potential situations:
1) Managing wounds from a trip or fall,
2) Treating mosquito bites,
3) Overheating.

The pages shown here are the care instructions that we give to our school nurse and classroom teachers, and we always make sure to schedule an in-person meeting to talk through the medical kit and instructions.

We also provide the nurses and teachers with our weekly schedule so they know where to find us and how to contact us if they need help.

We also make an agreement to say the teachers or nurses can take and send pictures via WhatsApp if they need confirmation of what to do over the phone.

If you’d like to know more about our experience of school life with EI, feel free to comment, or send me a DM - I’m always happy to help where I can!

Here’s to another successful year at school 😬

02/09/2026

Such a magical and poignant moment for my little EI rockstar…

A glass wing butterfly decided that Arienne was the perfect landing pad.

Butterflies are so symbolic for anyone affected by a skin blistering and fragility disorder.

You would never have known it, but at the very same time she was suffering with quite a nasty infection on her leg after being bitten by a simple mosquito.

People always say “It looks so painful” and it is. The wounds throb, her whole leg hurts, and she’s afraid of every care episode to try to manage it and treat it…

And yet here she is, with all that, just smiling with joy because a butterfly chose her.

She’s my inspiration, my hero, and my reason for founding the EI Cure Project.

If you’ve never heard of Epidermolytic Ichthyosis before, it’s a rotten disease, but our kids keep smiling anyhow…

Please take a moment and learn more about EI, and consider helping us to fund research to find a cure.

www.eicureproject.com

I’m really hoping all that resilience and courage can be put to better use one day when we find a cure!

12/08/2026

Introducing the first draft of the “EI Neonate Care Wheel”! 🤗

I’ve been working hard on the first draft of the new “International daily care recommendations for EI” following our intense Steering Committee Meetings on Day 2 of the EI Global Symposium.

I really want to make sure that when this information is published it isn’t left in another boring table that no one wants to read…

Instead, I came up with this, and I’m pretty pleased with how it turned out! I hope this will be a useful tool for Care Teams to use with a new EI baby in the NICU.

Of course, this diagram will be supported by text in the article to provide evidence to support each of the 24 statements - you’ll have to wait a bit longer for that to be published.

For now, please tell me what you think of the wheel, but remember to be kind…

The beating heart behind everything we do at the EI Cure Project is mine!

We don’t have a marketing team, or medical illustrators, or any fancy social media content creators… it’s all just me, jack of all trades, doing my best to be creative and make good decisions!

What do you think, would this have been useful to you as a healthcare professional OR as a new parent?

Many thanks for your kind consideration 🥰

PS. If you are looking for further guidance on EI care, please visit the EI Resources page on our website:
https://www.eicureproject.com/ei-resources

11/08/2026

I’m so excited to join the Great Ormond Street Hospital (GOSH) team for this 1st Pediatric Course in Epidermal Differentiation Disorders (EDDs).

If you’re a medical professional and would like to attend, please visit:
https://courses.gosh.org/event/615131/

A little synopsis about GOSH…
“Great Ormond Street Hospital is a world-leading children’s hospital in London, caring for ~76,000 young patients a year and pioneering treatments for rare and complex diseases. Founded in 1852 as the UK’s first dedicated children’s hospital, GOSH combines cutting-edge clinical care, research, and education to give seriously ill children the best chance of reaching their full potential.”

I’m deeply honoured to be invited to speak at this prestigious hospital, and am delighted to see the GOSH team leading the way with a dedicated clinical service for EDDs.

I’ll be joining a number of our EI Cure Project Research Alliance members on the program, including Professor Jemma Mellerio, Dr Joanna Jackow-Malinowska, Dr Gabriela Petrof, Professor Edel O’Toole, Dr Maria Bageta, and the fantastic EB and EDD clinical service lead, Dr Anna Martinez.

If you’d like to know more about caring for Epidermolytic Ichthyosis (EI), now called KRT-EDD-Epidermolytic, please see our EI Resources page for information on daily care, how to manage infections, useful skin care products, and a lot more:
https://www.eicureproject.com/ei-resources

Thank you for your kind attention 🥰

05/08/2026

EI Cure Project are delighted to share this short video of Professor Matthias Schmuth from Medical University of Innsbruck.

Matthias is a “Clinician Scientist” which means he sees patients in his dermatology clinic regularly, but he also leads scientific research projects too.

He is also an ERN-Skin expert for Ichthyosis, which means that you can be referred to him from anywhere in the world for teleconferencing support if you are lacking specialist care in your own country:
https://ern-skin.eu/medical-university-of-innsbruck/

If you ever have the pleasure of meeting Matthias, he is many things. He is incredibly smart, humble, and kind, and he really keeps his patients’ needs at the forefront of his research.

Matthias is also the Principle Investigator for an EI Cure funded research project entitled:
“Delivery of keratinocyte-targeting nano-carriers loaded with gene-editing tools to skin”

This project aims to explore one of the biggest challenges of gene therapy for genetic skin diseases, and that is to find a way to delivery gene-editing tools through intact skin (without open wounds, invasive grafts, or surgery).

If you’d like to read more about this exciting 3-year PhD project, please visit our research page for his project: https://www.eicureproject.com/our-research/daniela-ortner-tobider-and-matthias-schmuth

Matthias is one of the founding members of the EI Cure Project Research Alliance, and is very important to us. He is always there encouraging, supporting, and reassuring that what we are doing with EI Cure has immense value for an under-represented patient group

Behind the scenes, I know that Matthias is always there to help with a letter, a word of advice, a reference for a grant application, a video… and just about anything to help us on our way.

Many thanks to Matthias and his team. They are very much a part of our EI Cure Crew! Always on your side, and willing to do their part!

We can’t wait to learn more updates on this exciting project as we enter the projects third and final year this November!

Adresse

Via Cadepiano 20
Montagnola
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Telefon

+41791352151

Website

http://www.eicureproject.com/

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