type your search, and then press enter

News & Events

See what’s new in the field of hereditary eye diseases

Blog managed by the DBGen team, with updated therapies, news and events involving hereditary eye diseases. We invite you to take part in this forum.

First patient treated in ProQR STELLAR phase 1/2 gene therapy clinical trial for Usher Syndrome Type II

Usher syndrome is a genetic disorder that presents recessive inheritance and is characterized by hearing loss and retinitis pigmentosa, traits that may be total or partial. The prevalence of this disease is 1: 30,000 individuals considering the three types of USHER identified, the most common being type II (60% of cases), caused mostly by the USH2A gene. There was no...

read more

Interview with Marcela Ciccioli on progress of LHON patients treated with gene therapy in China

07/03/19 - Patients, Gene Therapy,

We firmly believe that the achievements of women in the field of hereditary eye diseases have to be made visible and acknowledged worldwide. For this reason, and to celebrate the International Women's Day, we have interviewed Marcela Ciccioli, President of Stargardt APNES Retina Argentina. Marcela is a tireless fighter, a source of energy and a beacon of hope. Her firm...

read more

A successful preclinical gene therapy assay for best disease

14/03/18 - Gene Therapy,

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...

read more

International Women’s Day: Tribute to Marie Gertude Rand

08/03/18 - Research,

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...

read more
Copyright © 2019. All Rights Reserved -