A great leap in the treatment of hereditary pathologies of vision: gene therapy

Of all the advances that scientific and technological development has brought in the field of hereditary pathologies that affect vision, the most relevant and transcendent for the patient is the possibility of applying treatments for diseases that, until now, were considered incurable. . 30 years ago a new type of therapy was successfully started: gene […]

Update on phase III therapies for hereditary vision disorders

When discussing the treatment for prevalent disorders such as hypertension or asthma, hardly ever do we stop and consider the time and effort that are needed to move from the characterization of the pathology at the clinical level to the implementation of an effective therapy. Nevertheless, this long, highly regulated process is an unavoidable step […]

GLOBAL STARGARDT’S DISEASE DAY

Stargardt’s syndrome, also known as juvenile macular degeneration, is a rare genetic disorder that usually develops in young adults and causes a progressive degeneration of the macula, the central region of the retina responsible for vsharp, central and color vision. Consequently, the main symptom of Stargardt’s disease is the loss of central vision and color […]

TwinPE: An improved genome-editing tool that allows inserting entire genes for gene therapy

Researchers at the Broad Institute of Harvard University have just reported in the scientific journal Nature Biotechnology an improved version of prime editing, the highly accurate genome editing method developed in 2019 by the same team. This new version, called twin prime editing (twinPE), allows insertion of DNA fragments of the size of a gene into specific sites of […]

Innovation in gene therapy designs for retinal diseases

Gene therapy aims to recover the normal function of the cells of a patient to obtain a therapeutic benefit by introducing genetic material. The benefit being, for example, in improving the immune system response to fight cancer or correcting a genetic disorder by rescuing gene function. Scientists harness the natural ability of viruses to transfer […]

Innovative gene therapy for autosomal dominant retinitis pigmentosa

Mutations in the RHO gene are the main cause of dominant forms of retinitis pigmentosa (RP). RHO dictates the production of rhodopsin, a transmembrane protein present in large quantities in the outer segment of rod photoreceptor cells which, together with 11-cis-retinal, initiates the phototransduction cascade. Mutations in RHO often cause photoreceptor toxicity because they negatively affect the function of the normal […]

Novel high-precision gene therapy to correct an eye disease in mice

Researchers from the Seoul National University (Korea) have applied for the first an improved genome-editing methodology, named prime editing to correct the genetic defects of two animal models of human disease: a liver disease (hereditary tyrosinemia) and an eye disease (Leber congenital amaurosis). This high-precision genome-editing tool, developed only two years ago by the team […]

Encouraging advances in therapies for Leber congenital amaurosis

Editas Medicine CRISPR therapy for CEP290 gene Editas Medicine, a company specialising in the development of gene editing therapies, has announced the recruitment of paediatric patients to the Brilliance trial. This phase 1/2 clinical trial began last year and is based on the CRISPR gene editing methodology to excise the intron mutation c.2991+1655A>G, which produces an aberrant […]

Promising results for a first-in-class Usher syndrome IIA therapy

The Dutch biotechnology company ProQR has just presented (March 2021) the first results of a clinical trial, named Stellar, with QR-421a, an antisense oligonucleotide designed to stop vision loss or restore vision in Usher syndrome IIA and non-syndromic retinitis pigmentosa patients due to USH2A exon 13 mutations. The therapeutical approach aims to exclude the exon 13 coding region in the […]

Direct reprogramming of skin cells into photoreceptors in mice

The end result of many retinal dystrophies is photoreceptor cell death and the irreversible loss of vision. To prevent the progressive loss of retinal neurons, and to slow down or reverse the progression of the disease, gene therapies are currently under study to correct or replace the altered genes responsible for different retinopathies. Another therapeutic strategy that […]