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Our research impact

Isla, who lives with recessive dystrophic epidermolysis bullosa (RDEB), playing with her dog.
Isla, who lives with recessive dystrophic epidermolysis bullosa (RDEB).

“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 and Isla, DEBRA Members

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 our 2021 impact report

DOWNLOAD OUR EBS Impact 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

DEBRA UK Project Scientific publication Plain language article

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
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
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

 

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 (2023) 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 (2023) Epidermolysis bullosa

 

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

 

 

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.