Annual Review 2012 - DebRA

Making the differenceResearchDEBRA seeks £1,881,736 in 2013 to meet our research aimsDEBRA’s knowledge of EB is increasing and weare beginning to develop treatments which weexpect, based on extensive laboratory andpreclinical research, could offer real relief topeople with EB. Research represents hope andwe endeavour to balance our commitmentbetween projects we are confident will deliverbenefit in the near term, as well as those offeringmore significant long-term outcomes.DEBRA is now seeing a rapidly changing pictureof therapies progressing from laboratoryresearch, to preclinical studies, to clinical trials. EBresearch is dynamic and it is likely that eventual“cures” will be the result of an amalgamation ofvarious approaches currently in development,together with novel technologies and concepts asyet to emerge from fundamental research into EB.• Extraordinary progress has been made in ourunderstanding of the condition since DEBRAbegan funding research. As a direct result ofyour support we now know 12 genesassociated with the classic types of EB andincreasing knowledge is revealing many newgenes – another 5 or so to date – associatedwith rarer, or previously undiagnosed forms ofEB and conditions related to EB. We are theworld leaders in our field with only around onethird of other rare genetic conditions havingalso reached the point of identifying a causativegene.• DEBRA’s highly collaborative global approach toour work enables funding to be concentrated onthe best research most likely to lead toimproved treatments, and to be totallycoordinated to avoid unnecessary andexpensive duplication of research effort. Whenselecting our advanced and ground-breakingresearch DEBRA coordinates internationallywith DEBRAs and other EB research fundersaround the world.• We see DEBRA’s unique contribution asproviding seed funding to get research projects“off the ground”. This hugely successfulapproach allows ideas to be developed in thelab and through early stage trials to get to apoint where a commercial partner sees thedevelopments as a viable investment.Growing sheets of epidermal skin cells in the lab.• Because DEBRA researchers work withinuniversities and other research institutions webenefit from the infrastructure and resources ofthese organisations – allowing every pound youdonate to work much, much harder as we don’tthen pay for rents and expensive equipment.DEBRA International’s Medical and ScientificAdvisory Panel (MSAP) Board, in conjunctionwith senior EB researchers worldwide andpatient input, states that priorities forresearch funding are:• To spend research funds roughly 50/50 splitbetween long term and more immediate neartermbenefit.• To develop our understanding and practicalapplication of gene, cell and protein therapiesto manipulate the faulty genes that cause EB inorder to provide symptom relief.• Continue to develop our understanding andpractical application of wound healingtreatments. This will be a combination ofclinical and lab work with nurses andresearchers looking at effective dressings useas well as gene and cell manipulation.• Understand why squamous cell carcinomacancer is so aggressive in EB patients, andseek to understand if available treatments canbe of benefit in the near term.• Continue our commitment to understanding thecauses and make-up of EB and improvediagnosis expertise.4