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 […]
Optogenetic therapy to restore advanced vision loss in retinal dystrophies
Gene therapies currently under study for retinal dystrophies are administered when viable photoreceptor able to be rescued at the functional level still remain. Most therapies are gene-specific and, in some cases, mutation-specific. In advanced disease stages, when a large number of photoreceptor cells have degenerated, the probability of success of these therapies is very low. […]
Encouraging results from achromatopsia gene therapy trials
In the first months of 2020, positive results in gene therapy of X-linked retinitis pigmentosa (XLRP) have been reported. XLRP is an inherited genetic disorder that causes progressive vision loss, mainly in men. It begins in childhood with night blindness, progresses with the gradual reduction of the visual field and visual acuity, and leads to blindness […]
A third of the world’s population carries mutations associated with retinal dystrophies
A very recent study published in the scientific journal PNAS highlights an estimate, on a global scale, of the frequency of individuals carrying pathogenic mutations responsible for inherited retinal dystrophies (IRD) and illustrates the prevalence of this group of diseases. These data are highly relevant for genetic diagnosis, genetic counselling and the design of new therapies. The authors studied the information gathered […]
First gene therapy application of Luxturna in the UK
This February Moorfields Eye Hospital in London and Radcliffe Hospital in Oxford have started treating patients affected by Leber congenital amaurosis (LCA) with the Luxturna gene therapy. LCA is a childhood-onset severe retinal dystrophy, which causes irreversible blindness for which, until now, no treatment was available. Luxturna (voretigene neparvovec) is also the first gene therapy approved for […]
Gene therapies open very promising scenarios for the treatment of genetic blindness
Not so far ago, a patient that was clinically diagnosed with a retinal inherited dystrophy had to face an unavoidable outcome, eventual blindness. No effective treatment to cure or halt the progression of the disease was available. This gloomy perspective has been completely upturned by the implementation of cutting edge technologies, and the future looks […]
New RNA therapy for autosomal dominant retinitis pigmentosa
The United States Food and Drug Administration (FDA) has just approved the designation of the QR-1123 therapy by the Dutch company ProQR as a new investigational drug. This drug aims to treat a form of autosomal dominant retinitis pigmentosa (RPad) caused by the P23H mutation in the rhodopsin gene (RHO). QR-1123 is an antisense oligonucleotide, that is, a short […]
A race against the clock for Leber congenital amaurosis gene therapy
ProQR Sepofarsen therapy On July 29, the Dutch company ProQR announced that the European Medicines Agency (EMA) has granted access to the Agency’s priority medicine program (PRIME) to its Sepofarsen therapy (QR-110), designed for the treatment of Leber congenital amaurosis (LCA10), a childhood blinding disorder, caused by the c.2991+1655A>G (p.Cys998 *) mutation in the CEP290 gene. The […]
DBGen and the UB-CIBERER U-718 group present their current research in genetic diagnosis and animal models of inherited retinal dystrophies in ARVO 2019
Dr. Gemma Marfany (co-founder and scientific board member of DBGen) presented an oral communication in ARVO 2019 (held in Vancouver, 2-6 May) to show the most prominent results of the research that his group at the UB-CIBERER (U-718) and DBGEN are currently undertaking to study inherited retinal dystrophies. This work is focused on improved genetic […]
RPGeNet v2.0 allows visualizing interactions of more than 270 causative genes of inherited retinal dystrophies
RPGeNet is a network dedicated to provide a graphical platform that links retinal dystrophies causative genes with their molecular interactors. The aim of this network is granting researchers a tool that allows them to understand the pathological process in its cellular and histological context, highlight key molecular players of retinal degeneration and unveil new candidate genes […]