Gene Therapy Creates New Skin to Save a Dying Child

Doctors grew sheets of healthy skin that were transplanted onto a boy with a genetic disease that caused blistering and tearing all over his body.
Source: NYT Health - Category: Consumer Health News Authors: Tags: Skin Epidermolysis Bullosa Genetic Engineering Nature (Journal) Source Type: news

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Epidermolysis bullosa simplex (EBS) is an autosomal dominant skin fragility disorder caused by mutations in either Keratin (K) 5 or K14. Although current therapy for EBS is limited to wound care, advances in reprogramming somatic cells into induced pluripotent stem cells (iPSC) offer the possibility of developing new approaches for EBS treatment. The iPSC-based therapeutic approach for EBS relies on the generation of patient-specific iPSCs, which then undergo genetic editing and differentiation into skin cells suitable for transplantation.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research
Doctors grew sheets of healthy skin that were transplanted onto a boy with a genetic disease that caused blistering and tearing all over his body.
Source: NYT Health - Category: Consumer Health News Authors: Tags: Skin Epidermolysis Bullosa Genetic Engineering Nature (Journal) Source Type: news
(Ruhr-University Bochum) A medical team at the Ruhr-Universit ä t Bochum's burn unit and the Center for Regenerative Medicine at the University of Modena (Italy) were the first ever to successfully treat a child suffering from extensive skin damage using transplants derived from genetically modified stem cells. The boy is a so-called butterfly child: he suffers from epidermolysis bullosa, a genetic skin disease that had destroyed approximately 80 percent of his epidermis.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
We report a gene delivery approach based on the Sleeping beauty transposon, which allows integration of a full-length COL7A1 cDNA and secretion of C7 at physiological levels in RDEB keratinocytes without rearrangements or detrimental effects on their clonogenic potential.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Original Article Source Type: research
This article reports a gene delivery approach based on the Sleeping beauty transposon, which allows integration of a full-length COL7A1 cDNA and secretion of C7 at physiological levels in RDEB keratinocytes without rearrangements or detrimental effects on their clonogenic potential.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Original Article Source Type: research
We here report on the first patient affected by the genetic skin disease junctional epidermolysis bullosa (JEB), in whom an autologous cell and gene therapy product has been transplanted onto a non-healing epidermal ulceration. The whole study was carried out following a GMP protocol. A 49-years old patient affected by JEB, LAMB3 reduced, was suffering from a large ulceration on her right calf for 10 years accompanied by recurrent infections and fluid loss despite extensive conservative therapy.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetics and Cell Based Therapy Source Type: research
Current immunocompetent Col7A1-null mouse models of recessive dystrophic epidermolysis bullosa (RDEB) are not amenable to studies involving the transplantation of human cells. To address this limitation, we used pro-nuclear injection and CRISPR/Cas9 technology to disrupt Col7a1 in immunodeficient NOD/SCID IL2Rg-null (NSG) embryos; a strain permissive to adoptive transfer of human cells. Tandem guide RNAs (gRNA) targeting exon two of Col7a1 were co-delivered with Cas9 into single-cell embryos via pronuclear injection.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation & Gene Therapy Source Type: research
Abstract In the past few years, substantial preclinical and experimental advances have been made in the treatment of the severe monogenic skin blistering disease epidermolysis bullosa (EB). Promising approaches have been developed in the fields of protein and cell therapies, including allogeneic stem cell transplantation; in addition, the application of gene therapy approaches has become reality. The first ex vivo gene therapy for a junctional EB (JEB) patient was performed in Italy more than 8 years ago and was shown to be effective. We have now continued this approach for an Austrian JEB patient. Further, clinic...
Source: The Keio Journal of Medicine - Category: Universities & Medical Training Authors: Tags: Keio J Med Source Type: research
In conclusion, a clonal strategy is a powerful and efficient means of by‐passing the heterogeneity of a transduced stem cell population. It guarantees a safe and homogenous medicinal product, fulfilling the principle of precaution and the requirements of regulatory affairs. Furthermore, a clonal strategy makes it possible to envision exciting gene‐editing technologies like zinc finger nucleases, TALENs and homologous recombination for next‐generation gene therapy. First time demonstration of a safe clonal strategy for ex vivo gene therapy before autologous transduced cells are transplanted into patients. Using reces...
Source: EMBO Molecular Medicine - Category: Molecular Biology Authors: Tags: Research Article Source Type: research
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