ENGLISH Media Package

EI Cure Project

By Founder

Helen Lill

www.EIcureproject.com

What is EI? ● Epidermolytic Ichthyosis (EI) is a rare genetic skin disorder which can be inherited or can occur spontaneously during pregnancy. ● Affected genes: KRT1, KRT2, KRT9, KRT10 ● EI is characterised by blistering and skin fragility alongside excess skin growth (Hyperkeratosis) of the joints and flexures ● There is no cure, it is only possible to try to manage the pain and discomfort with long baths, exfoliation, wound care, and the application of many different creams. www.EIcureproject.com

How does EI affect everyday life? ● Skin can get so thick that it restricts movement ● Thick skin prevents release of sweat so affected persons easily overheat and can feel very unwell at normal temperatures ● Skin blisters easily: from clothing seams and labels, sitting in a car seat or stroller, or just from getting too hot ● Skin lacks elasticity, so it will crack, tear, and bleed often ● Skin is often very itchy and painful and can affect mobility and behaviour ● Systemic skin infections occur frequently and are common, extremely painful, and can become life-threatening if not treated appropriately ● People with EI look different, and are often treated like social outcasts ● Skin care takes 2 to 4 hours every day ● Most people with EI need disability support for life www.EIcureproject.com

What does EI look like?

www.EIcureproject.com

Living with EI is…

“Having to use a wheelchair because my feet are just so sore” “Having to use an electric sanding tool to keep my daughters’ hands and feet functional” “Hearing my 9 year old son say that he wishes he were dead because he hates his skin so much” “Having to soak my screaming daughter fully-clothed in the bath because her clothes have fused with her wounds” “Having people think I abuse my baby because of how his skin looks” “Growing up feeling lonely because everyone thinks I’m the girl with the weird skin” www.EIcureproject.com

What is the EI Cure Project? ● A Not-for-Profit Organisation “The EI cure project aims to raise funds for the explicit intent of providing research grants to help those affected

by EI. Funding may be used for pre-clinical and clinical research with the intention of finding a cure for EI”

www.EIcureproject.com

What is the EI Cure Project? ● We hold 3 formal not-for-profit organisations in Switzerland, America, and the UK ● We have a 12-strong board of directors who work together across all 3 organisations ● We also have a general committee of members who serve as EI Cure Project Ambassadors for 26 different countries ● Together we represent our GLOBAL community, united to find a cure for EI www.EIcureproject.com

What is the EI Cure Project? ● Global collaboration between patient advocates, investors, and world-leading researchers in gene editing ○ Dr Julia Reichelt (Qatar) ○ Professor Matthias Schmuth (Austria)

● 3 phases (3 - 5 years per phase, 10 - 15 years total): ○ 1st Phase - Fund 3 PhD scholarships for pre-clinical studies ○ 2nd Phase - Conduct human clinical trials ○ 3rd Phase - Transition into the clinic www.EIcureproject.com

What is the EI Cure Project? ● Phase 1 - Fund 3 PhD scholarships (CHF 300,000) ○ Cross-site research environment (Qatar and Austria) ○ Supervision by Dr Julia Reichelt and Prof. Matthias Schmuth

● Personalised Gene-editing for KRT1, KRT2, KRT9, KRT10 ○ Scholarship 1 - Develop a CRISPR-Cas9 tool-kit to find and edit the mutation anywhere within the gene ○ Scholarship 2 - Explore and develop the use of base-editing tools, which permit a gene-edit without double-strand breaks ○ Scholarship 3 - Develop in-vivo approach which can be used for multiple families to help reduce the cost of a cure www.EIcureproject.com

Why do we need to help? ● EI affects 1 in 300,000 people, it is extremely RARE, and this means EI is referred to as an ‘Orphan Disease’ ● The cost for research outweighs the potential profit from a product, so there is no financial incentive to fund Pre-clinical research ● A cure will NEVER be found unless we fund it ourselves ● Our researchers know how to cure EI, they just need the money to pay for the time they need to prove it! ● Once proof-of-concept data is available from pre-clinical studies, motivational grants for orphan disease will help to support the cost of clinical trials, but these grants don’t cover preclinical research www.EIcureproject.com

Why invest in the EI cure project? ● There are currently no treatments for EI available in the world ● There are no other organisations in the world whose sole focus is to cure EI ● Finding an in-vivo gene-editing solution for a blistering skin disease would be celebrated by the scientific community across the globe ● Realising a cure for EI will improve the safety profile of gene editing for other conditions, and will lead to technique adaptation for other autosomal dominant diseases ● EI is a chronic lifelong condition, and the cost burden is very high.

The only way to remove this burden is to INVEST in gene editing to find a cure www.EIcureproject.com

Can you help us?

We want to spend less time on care, and more time at play! www.EIcureproject.com

Reach for the sky, and find a cure for EI

www.EIcureproject.com