Skip to content

Our research publications

A woman stands between rows of card catalog drawers, reading a large book, with several open and closed books on a table in front of her.

Published research outcomes

The outcomes of research funded by DEBRA UK are published in peer-reviewed scientific journals, often accompanied by plain language articles for the general public.

Publishing in peer-reviewed journals is important because it:

  • Validates research quality through the process of expert review – other researchers carefully examine what was done before it is published.
  • Disseminates knowledge to the wider scientific community – every new piece of information helps to increase our understanding of EB.
  • Builds academic credibility and supports career progression – our researchers, and their work on EB become better known.
  • Creates a permanent, citable record of the work – the evidence gathered can be referred back to by researchers of the future.
  • Ensures ethical and professional standards are upheld – peer-review and publication ensures transparency.

 

Acknowledging funding from DEBRA UK:

When presenting or publishing results, the funding from DEBRA UK should be acknowledged by our researchers using our logo and the wording: 

‘Funding for <PI/Project> – grant number <GRXXXXXX> 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

DEBRA UK Project Scientific publication Plain language article

Treating DEB itch with stem cells (2022)

Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study  

Repurposing anti-scarring drugs in RDEB (2023)

Histone deacetylase inhibition mitigates fibrosis-driven disease progression in recessive dystrophic epidermolysis bullosa  

EB Clinical Practice Guidelines

Neonatal epidermolysis bullosa: a clinical practice guideline Practical guide for epidermolysis bullosa management in the first 4 weeks of life

KEB and skin cancer (2024)

Involvement of Kindlin-1 in cutaneous squamous cell carcinoma  

PEBLES RDEB symptoms study (2022)

Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES) Pain  common, but hard to manage, in RDEB: study

Permanent gene therapy for RDEB

Topical gene editing therapeutics using lipid nanoparticles: ‘gene creams’ for genetic skin diseases? ‘Gene creams’ for genetic diseases

Permanent gene therapy for RDEB

Lipid Nanoparticles Efficiently Deliver the Base Editor ABE8e for COL7A1 Correction in Dystrophic Epidermolysis Bullosa Fibroblasts In Vitro  

Skin microbiome of all EB types (2023)

Wound healing in all types of EB (2023)

Genotype-phenotype correlation in Junctional Epidermolysis Bullosa: signposts to severity Unique JEB mutations explain wide clinical variability, study shows
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 (2023) Gamma-Secretase Inhibitors Downregulate the Profibrotic NOTCH Signaling Pathway in Recessive Dystrophic Epidermolysis Bullosa Blocking NOTCH signaling pathway could ease RDEB scarring: Study
DEBRA UK Project Scientific publication Plain language article
Modifer genes in JEB (2017) Seven naturally variant loci serve as genetic modifiers of Lamc2jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice  
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  
Wound healing in all types of EB (2023) IgA nephropathy in adults with epidermolysis bullosa  
Wound healing in all types of EB (2023) Are existing validated severity scores for epidermolysis bullosa reflective of the burden of disease in patients with epidermolysis bullosa simplex?  
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 
Wound healing in all types of EB (2023) 967 Spatiotemporal shifts of microbial communities at different stages of wound healing in epidermolysis bullosa  
Wound healing in all types of EB (2023) BG05 Artificial intelligence prediction of splice site mutation consequences in junctional epidermolysis bullosa: signposts to severity  
Wound healing in all types of EB (2023) BG06 Beyond keratin: when simplex is not so simple  

 

DEBRA UK Project Scientific publication
Spray on RDEB gene therapy (2022) The potential of gene therapy for recessive dystrophic epidermolysis bullosa
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 (2023)

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 (2023) Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1)
Wound healing in all types of EB (2023) P17: Transitional care arrangements in epidermolysis bullosa: a prototype for wider dermatology
Wound healing in all types of EB (2023) BG11: Scratching the ocular surface: a retrospective review of ophthalmological manifestations in epidermolysis bullosa
Wound healing in all types of EB (2023) BG12: Cicatricial junctional epidermolysis bullosa: a forgotten subtype
Wound healing in all types of EB (2023) 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 (2023) P33: Influencers in epidermolysis bullosa: the cutaneous microbiome

 

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 (2023) Diagnosing genetic skin disease  
Wound healing in all types of EB (2023) P45: The good, the bad and the ugly: inflammation in epidermolysis bullosa wounds  
Wound healing in all types of EB (2023) BG08: JEBseq: a novel database to explore genotype–phenotype correlation in junctional epidermolysis bullosa

 

Logo of DEBRA UK. The logo features blue butterfly icons and the organization's name. Underneath, the tagline reads "The Butterfly Skin Charity.
Privacy Overview

This website uses cookies so that we can provide you with the best user experience possible. Cookie information is stored in your browser and performs functions such as recognising you when you return to our website and helping our team to understand which sections of the website you find most interesting and useful.