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Spanish press recognizes our work and commitment
On Sunday, April 1st, the prestigious newspaper La Vanguardia in its printed version published an article about our company and our commitment to the people that suffers one of the more than 500 visual pathologies that have a genetic basis. The article highlights several characteristics of DBGen such as our commitment to innovation through the establishment of a cutting-edge science...
A successful preclinical gene therapy assay for best disease
Bestrophinopathy (Best disease), caused by mutations in the BEST1 gene, is an hereditary maculopathy that eventually causes eyesight loss in young people. A research group from University of Pennsylvania (US) used gene therapy to successfully treat this disease in a canine natural model. Subretinal microinjection of therapeutic adenoassociated virus containing the human BEST1 gene corrected the mutation effects in the retinal pigment epithelium (RPE),...
International Women’s Day: Tribute to Marie Gertude Rand
Today, March 8, is the International Women’s Day, a date to commemorate women contribution to science and pay due tribute to Marie Gertrude Rand (1886-1970), an experimental psychologist with outstanding contributions to ophthalmology, physiological optics and lighting instruments design. She received her B.A. (1908) in experimental psychology from Cornell University and her Ph.D. on the “The factors that influence the...
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 thousands of people in order...
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 patient with Stargardt’s disease. Marcela...
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 to rare syndromes can be...