Our research impact Isla, who lives with recessive dystrophic epidermolysis bullosa (RDEB) with her dad, Andy. What I hope for EB research is to make what was once impossible, possible. I want a brighter future for Isla; I want a cure to happen in her lifetime. - Andy & Isla, DEBRA Members Contents Our research impact report Acknowledging funding from DEBRA UK Publications resulting from DEBRA UK funding Our research impact report Here at DEBRA UK, Andy & Isla's goals are also our goals. By downloading your own copy of the DEBRA UK Research Impact Report 2021, you can become familiar with the impact of epidermolysis bullosa (EB) on the lives of thousands of UK children, men and women as EB researchers strive to find a cure. Discover: The scope of people affected by this debilitating skin disease; Our positive outlook on a future free from EB; Specialist healthcare and services available to EB patients and families; Commitment to quality research on behalf of EB patients and families; And more. DOWNLOAD THE 2021 REPORT Acknowledging funding from DEBRA UK: When presenting or publishing results, the funding from DEBRA UK should be acknowledged using our logo and the wording: ‘Funding for <PI/Project> - grant number <GR0000XX> was obtained from DEBRA UK.’ The Principal Investigator should send pdf of all published papers, submitted manuscripts and conference abstracts regarding the Project to DEBRA UK throughout the grant period and for five years after the grant has ended. Publications will be listed below: Publications resulting from DEBRA UK funding: 2024 2023 2022 2021 2020 2019 2024: DEBRA UK Project Scientific publication Plain language article Understanding airway disease in JEB (2023) Of LAMA3 and LAMB3: A novel gene therapy for epidermolysis bullosa (Commentary on work published in 2024) Understanding airway disease in JEB (2023) Lentiviral expression of wildtype LAMA3A restores cell adhesion in airway basal cells from children with epidermolysis bullosa Cell and gene therapy approach shows promise for EB children Scarring in RDEB (2024) Gamma-Secretase Inhibitors Downregulate the Profibrotic NOTCH Signaling Pathway in Recessive Dystrophic Epidermolysis Bullosa Blocking NOTCH signaling pathway could ease RDEB scarring: Study Back to contents 2023: DEBRA UK Project Scientific publication Plain language article PEBLES RDEB symptoms study (2022) Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study Itch is common in RDEB - available treatments don't help much PEBLES RDEB symptoms study (2022) Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study Skin microbiome of all EB types (2023) Genotype-phenotype correlation in Junctional Epidermolysis Bullosa: signposts to severity Unique JEB mutations explain wide clinical variability, study shows Immune system involvement in RDEB (2023) Inflammation-mediated fibroblast activation and immune dysregulation in collagen VII-deficient skin Inflammation in RDEB may favor skin cancer growth Back to contents 2022: DEBRA UK Project Scientific publication Plain language article Immune system cells and RDEB wounds (2022) Role of mTOR Signaling Cascade in Epidermal Morphogenesis and Skin Barrier Formation Walking with EBS (2022) P35: Alterations of forces applied under the feet in patients with epidermolysis bullosa simplex during gait Walking with EBS (2022) Wound healing in all types of EB 488 Ground reaction forces (GRF) in patients with epidermolysis bullosa simplex (EBS) during walking Spray on RDEB gene therapy (2022) A systematic review of population-based genotype-phenotype correlations in recessive dystrophic epidermolysis bullosa (RDEB) Spray on RDEB gene therapy (2022) Restoring type VII collagen in skin Cannabinoid treatment for all EB pain and itch The C4EB study—Transvamix (10% THC / 5% CBD) to treat chronic pain in epidermolysis bullosa: A protocol for an explorative randomized, placebo controlled, and double blind intervention crossover study Wound healing in all types of EB Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1) Wound healing in all types of EB P17: Transitional care arrangements in epidermolysis bullosa: a prototype for wider dermatology Wound healing in all types of EB BG11: Scratching the ocular surface: a retrospective review of ophthalmological manifestations in epidermolysis bullosa Wound healing in all types of EB BG12: Cicatricial junctional epidermolysis bullosa: a forgotten subtype Wound healing in all types of EB LB978 High relative abundance of bacillales is associated with epidermolysis bullosa (EB) at different stages of wound healing Wound healing in all types of EB P33: Influencers in epidermolysis bullosa: the cutaneous microbiome 2021: DEBRA UK Project Scientific publication Plain language article Treating DEB itch with stem cells (2022) Prevalence, pathophysiology and management of itch in epidermolysis bullosa Treating DEB itch with stem cells (2022) Transcriptomic profiling of recessive dystrophic epidermolysis bullosa wounded skin highlights drug repurposing opportunities to improve wound healing Methotrexate might help in skin healing in RDEB, study suggests Immune system cells and RDEB wounds (2022) Regulation of the Wound Healing Response during Aging Immune system cells and RDEB wounds (2022) Mitochondrial metabolism coordinates stage-specific repair processes in macrophages during wound healing Mouth/throat spray treatment (2022) Low Acyl Gellan as an Excipient to Improve the Sprayability and Mucoadhesion of Iota Carrageenan in a Nasal Spray to Prevent Infection With SARS-CoV-2 Spray on RDEB gene therapy (2022) The potential of gene therapy for recessive dystrophic epidermolysis bullosa Repurposing anti-scarring drugs in RDEB Scarring in RDEB (2024) Notch-ing up knowledge on molecular mechanisms of skin fibrosis: focus on the multifaceted Notch signalling pathway Wound healing in all types of EB Diagnosing genetic skin disease Wound healing in all types of EB P45: The good, the bad and the ugly: inflammation in epidermolysis bullosa wounds Back to contents 2020: DEBRA UK Project Scientific Publication Plain language Article Immune system cells and RDEB wounds (2022) Glutamine Metabolism Controls Stem Cell Fate Reversibility and Long-Term Maintenance in the Hair Follicle RDEB skin cancer Heterogeneous addiction to transforming growth factor-beta signalling in recessive dystrophic epidermolysis bullosa-associated cutaneous squamous cell carcinoma Wound healing in all types of EB Epidermolysis bullosa 2019: DEBRA UK Project Scientific Publication Plain language Article Immune system cells and RDEB wounds (2022) Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation Rigosertib for RDEB SSC (2022) Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma Rigosertib may be effective, safe for squamous cell carcinoma in RDEB patients, study suggests Back to contents We'd love to hear from you! We want to hear the voices of families living with EB to help us decide which research projects to fund. If you would like to let us know your thoughts about our research or would be happy for us to contact you to ask for your opinion on what research we fund, please get involved. Manage Cookie Preferences