Insamlat till forskning under 2017-2019: 325 176 kr
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
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.
Tillsammans med DEBRA International (Den internationella EB-föreningen) och DEBRA Österrike hittade vi ett väldigt intressant forskningsprojekt som specialiserar sig RDEB (den varianten av EB som Natalie har). Det är med stor glädje och stolthet vi presenterar 2018 års donation. Stort tack till alla deltagare och sponsorer/välgörare som gjort detta möjligt!
Pengarna donerades till Dr. Tolars gene editing work via www.sohanaresearchfund.org. Sohana Research Foundation har nu bytt namn till Cure EB. Tack alla underbara sponsorer för att ni trodde på oss!
Forskningsprojektet: Hovnanian 7
"People with RDEB (recessive dystrophic epidermolysis bullosa) lack the collagen 7 protein that acts as a glue between the outer, and the deeper, layers of skin, as a result of mutations in the collagen 7 gene (COL 7A1).
Because of this, they suffer chronic blistering and erosions of the skin, and there is currently no specific treatment available. This project aims to develop a new gene therapy treatment to correct the COL 7A1 mutations, thus restoring expression of the collagen 7 protein to the skin.
The project will use a combined editing-reprogramming approach suitable for clinical translation. Demonstrating proof-of-principle of this approach would create new opportunities for treatment of one of the most severe skin conditions in children and adults."
'Prof Alain Hovnanian acknowledges with deep gratitude the donation from EB-loppet, saying "On behalf of people with EB, I should like to express my warmest thanks to EB-loppet for raising funds to support this research.
Developing advanced therapies that target the underlying genetic cause has a very strong potential to reverse the disease burden, and making progress offers hope of treatments that will alleviate the disabling painful symptoms, and provide people with EB greater freedoms."