Gene therapies for inherited skin disorders.

[junctional epidermolysis bullosa]

Skin is an amenable organ for gene replacement and gene editing therapeutics . Its accessibility makes it well-suited for direct topical gene delivery , grafting of genetically corrected cells , and monitoring of possible adverse events . Monogenic recessive disorders with a clinically severe or life-threatening phenotype provide the best candidate diseases for the introduction of a single normal copy of the gene into the target cell , usually keratinocytes . Preclinical studies have shown impressive results in terms of gene correction using both in vivo and ex vivo approaches . The clinical application of gene replacement or genomic editing as potential therapies for inherited skin disorders , however , has been held back by the inadequacy of delivery vectors and concerns from regulatory agencies regarding safety ; thus translation to clinical trials has been slow . Over the past 15 years , cell culture and animal models have shown efficient gene correction techniques as preludes to treat inherited skin disorders such as junctional epidermolysis bullosa , dystrophic epidermolysis bullosa , xeroderma pigmentosum , lamellar ichthyosis and Netherton syndrome , but so far only one patient has been treated in a clinical trial . This article reviews the current status of gene therapies for patients with inherited skin diseases and explores future perspectives .

Diseases
Validation

Diseases presenting "however" symptom

adrenal incidentaloma

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cushing syndrome

dedifferentiated liposarcoma

dracunculiasis

dystrophic epidermolysis bullosa

esophageal carcinoma

focal myositis

heparin-induced thrombocytopenia

hodgkin lymphoma, classical

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

omenn syndrome

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

sneddon syndrome

thoracic outlet syndrome

von hippel-lindau disease

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

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