Small chaperones to treat retinitis pigmentosa
Rhodopsin is the main photopigment in rods. Many mutations in the rhodopsin gene translate into a misfolded nonfunctional protein that is toxic, thus causing photoreceptor death and premature retinitis pigmentosa. Many research groups are looking for therapeutic approaches to treat this type of untreatable retinal dystrophy, for instance by CRISPR/Cas9 gene editing. Nonetheless, a group […]
First cell therapy clinical assay for dry Age-Related Macular Degeneration
Dry Age-Related Macular Degeneration (ARMD) is a frequent retinal neurodegenerative disorder that eventually leads to severe blindness. ARMD is a complex disease, triggered by several environmental as well as susceptibility genetic factors. There is no current effective treatment that can halt the progressive loss of retinal pigment epithelium, the phenotypic hallmark of ARMD. Very promising […]
Interview with Margaret Creus – Rare Disease Day
We are celebrating the Rare Disease Day giving voice to our patients and their families. Now is the turn of Margaret Creus, leader of PedRetina, pediatrician and mother of a patient of Stargardt’s disease. Margaret is also a tireless fighter, a commited seeker of innovative solutions and experienced organizer of sports and cultural activities, gathering […]
Interview with Marcela Ciccioli – Rare Disease Day
We believe it is essential to keep a close relationship with all of our patients and know their stories. This is why to celebrate the Rare Disease Day, we have interviewed Marcela Ciccioli, president of Stargardt APNES (Asociación de Pacientes y Padres de Niños con Enfermedad de Stargardt de Argentina) and mother of Victoria, a […]