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 […]
Relevance of the identification and characterization of deep-intronic mutations
Genes are DNA sequences that contain information for the synthesis of proteins and they are composed of exonic and intronic sequences. The exons possess the information used for the protein synthesis, whereas the introns, although they do not contain information translated into protein, they play an important role to ensure their correct formation. Each gene […]
CERKL a Retinitis Pigmentosa gene and a suggestive therapy target
Inherited retinal dystrophies (IRDs) are a broad group of neurodegenerative disorders associated with reduced or deteriorating visual system. In the retina, cells are under constant oxidative stress due to several environmental factors, particularly light exposure and physiological stress, making photoreceptors and retinal ganglion cells more susceptible to cell death. Inherited mutations in relevant genes that […]
Latest reports on retinal dystrophy gene therapy clinical trials
Recently, a worldwide congress on vision research, ARVO 2018, was held on the 29th April-2nd May in Honolulu. Several sessions were dedicated to present the latest reports on retinal dystrophy gene therapy clinical trials. Gene therapy is a type of precision medicine that aims to treat the genetic defect behind a particular disorder, thus gene […]
World DNA day
Two intertwined lines, a glimpse of an helix… no doubt, this is the symbol of DNA. The structure of DNA has completely revolutionized our view of the world, the double helix allowed us to understand how genetic information is transmitted to progeny and how we could decypher the instructions encoded in genes. On 25th of April […]
Latest article from our research about genetic diagnosis of patients with complex retinal dystrophy and ocular phenotypes
Some patients show complex blended phenotypes that combine retinal dystrophy with other ocular disorders. In these cases, the genetic diagnosis via massive sequencing performed by our team in collaboration with clinicians was instrumental to identify the causative retinal dystrophy mutations plus additional genetic variants that also impacted on the phenotype. Thus, multi-Mendelian phenotypes previously ascribed […]