2023: 150 000 kr

In RDEB, the high stiffness of the skin's connective tissue, known as fibrosis, represents a serious complication of the disease that leads to scarring, mitten-like deformities, and cancer development. Decreasing the fibrotic process can help a lot to improve the patient's quality of life. This group identified in fibroblasts from a RDEB patient with an unexpected mild phenotype a molecule called PRELP, an extracellular matrix proteoglycan that, like Decorin, another member of the proteoglycan family, may have antifibrotic properties. In this project the team will study, on the one hand, whether the fibroblasts of patients with mild RDEB may contain a specific subpopulation that is really responsible for antifibrotic activity and, if so, they will try to characterize them in detail. On the other hand, the team lead by Prof Carlos León and Prof Fernando Larcher will evaluate whether PRELP can prevent or counteract some of the fibrotic manifestations in a mouse model of RDEB. Successful results may lead to the addition of PRELP as a valuable therapeutic molecule for RDEB.

För att få mer information runt detta forskningsändamål gå in på projektets sida och lär mer:

https://www.eb-researchnetwork.org/projects/detail/characterization-of-novel-fibrosis-modulators-in-recessive-dystrophic-eb/

2022: 150 000 kr

Vi kan nu äntligen meddela att EB-loppet 2022 genererade 150 000 kr till forskning totalt har vi sammanlagt sedan vi startade EB-loppet samlat in drygt 700 000 kr till forskning för EB. Stort tack till alla fantastiska välgörare, privatpersoner och företag för att ni tror på det vi gör!

De insamlade pengarna för 2022 år slopp har nu landat hos forskningsprojektet León 1: Characterization of novel fibrosis modulators in Recessive Dystrophic EB.

.

"We are very grateful that you have chosen to support research – it is only through research that there is the prospect of being able to offer people with EB improved treatments. The Leon project meets one of EB ResearchNetwork’s priorities which is to identify targets for new drugs to reduce or prevent the chronic inflammation and fibrosis in people with RDEB which in turn leads to the initiation of cancers."

Slutgiltigen stort tack NATALIE för att du inspirerar och driver oss till att hjälpa till att göra skillnad du är den starkaste och grymmaste av oss alla, nu siktar vi högt, hur snart kan vi nå EN MILJON KRONOR!?

2021: 150 000 kr

Nu har vi äntligen donerat förra årets intäkter till EB-forskning, 150 000 SEK donerades till följande forskningsprojekt!

León 1: Characterization of novel fibrosis modulators in Recessive Dystrophic EB

In brief and MSAP/ DEBRA opinion

The chronic non-healing wounds of RDEB are characterized by inflammation and the formation of scar tissue (fibrosis), which are the cause of pain and disability as well presenting a higher risk for cancer development. This project aims to identify novel targets for drugs that reduce inflammation and fibrosis. By analysing at a detailed level the fibroblast skin cells of RDEB sisters who have very different symptom severity, some possible targets for drugs have been identified, and this project will investigate them further. Addressing chronic inflammation and fibrosis is a clinical priority, and a focus of support by DEBRA.

Lay Summary

In patients with RDEB, persistent inflammation, fibrosis, and squamous cell carcinoma (SCC) represent severe debilitating disease complications resulting from aberrant chronic wound healing. Early restoration of type VII (C7) collagen by any of the various drug, cell, and gene therapy approaches currently being investigated could prevent the development or progression of fibrotic, inflammatory, and oncogenic complications. Even so, there is an urgent need to mitigate or prevent these serious manifestations by addressing their causes, other than primary C7 deficiency, which are not fully characterized. Like other colleagues in the field, we are investigating the causes of fibrosis and cancer at RDEB and have found a curious case of two sisters with RDEB, one (S) showing very severe clinical signs and the other (M), unexpectedly, with much milder presentation (or phenotype). By studying the cells of sister M, we were able to identify some factors that may be protecting her from being seriously affected. In the present project we would like to explore the potential therapeutic value of these factors in faithful models of the disease in the hope of increasing the arsenal of drugs capable of improving the condition and alleviating the daily suffering of patients with RDEB

2020: 75 000 kr

Pengarna har nu tagits emot och därmed har vi nått upp till ännu en fantastisk milstolpe, 400 000 kr har donerats till EB-forskning på 4 år!

Tack alla ni som har varit med och bidragit till denna fantastiska siffra under åren!

2019: 140 000 kr till forskning

Lagom till jul har vi det stora nöjet att skänka en julklapp i form av 140 000kr till Prof. Giovanna Zambruno och hennes forskningsprojekt som ni kan läsa om nedan. Vi har också glädjen att informera er om att EB-loppet numera även är medlemmar i ett internationellt forskningsnätverk runt EB (EB-Research Network – EB-ResNet – is a group of patient organisations aiming to find a cure for people living with EB) , för mer information gå in här.

"EB-LOPPET's contribution will be used, alongside funding from DEBRA Austria, DEBRA UK and DEBRA Spain, to support the research project"MicroRNAs in dystrophic epidermolysis bullosa fibrosis: expression profiling, activity and therapeutic perspectives", led by Professor G Zambruno at the Hospital Bambino Gesu, in Rome. This project addresses one of the major distressing consequences of RDEB, the fibrosis  (scar tissue)  that forms as a result of chronic wounds. The project will investigate 'microRNAs' which play a role in fibrosis in RDEB. The project outcomes will not only provide a better understanding of the process by which the scar tissue forms, but may also identify new drug targets to combat fibrosis which not only has a severe effect on quality of life but poses a risk in that fibrotic areas of skin are the site where most often skin cancers arise.

This is currently a priority area for DEBRA, which held an Expert Panel meeting last year to address chronic inflammation and fibrosis leading to cancer: this project originates from a call for research proposals on this topic. Prof Zambruno's group has an excellent reputation and her research projects deliver results. She has worked on EB for many years and was previously Chair of DEBRA's Medical &Scientific Advisory Panel."

"Title: “MicroRNAs in dystrophic epidermolysis bullosa fibrosis: expression profiling, activity and therapeutic perspectives”

Research Lead: Prof. Giovanna ZAMBRUNO, Bambino Gesu Ospedale, IT

• Budget: 196.500 EUR
• Duration: 3 Years
• DEBRA Austria will issue contract, DEBRA UK, DEBRA Spain and EB-LOPPET will co-fund.

Project summary:

Recessive dystrophic epidermolysis bullosa (RDEB) is a chronic, highly disabling disease, without an approved  cure. In RDEB, unremitting blistering leads to fibrosis that plays an important role in the development of most severe  disease complications. Our DNA is made-up of genes that store the information to build proteins forming our body. The DNA instructions are transcribed into RNA molecules called messenger RNAs (mRNAs), which serve to produce proteins (translation). However, some RNAs, called non-coding RNAs, are not translated into proteins but regulate the amount of proteins produced.

MicroRNAs are non-coding RNAs that block protein production by interacting with specific mRNAs, defined  as microRNA targets. microRNAs are key regulators of all  biological processes and their aberrant function contributes to many diseases, including fibrotic skin disorders. We observed that some microRNAs are more abundant in fibroblasts from RDEB patients  (RDEBFs), and demonstrated the pro-fibrotic activity of one of these molecules (miR- 45-5p). 

Our project proposes to further explore the amount of microRNAs in RDEBFs through a massive screening approach,  and to characterize microRNA and their target contribution to RDEBF fibrotic behaviour. Our Study will (i) expand knowledge about the mechanisms of fibrosis in RDEB, and (ii) identify novel molecules for innovative anti-fibrotic therapies.