Former president of the Science and Technology Foundation wins Great … – Journal News

The winning work “The discovery of the gene to gene therapy in 20 years: the case of choroideremia, a hereditary retinal degeneration” is the result of research to a disease rare genetic, which affects the retina and causes blindness in males, accounting for about 4% of cases of blindness in the world.

Miguel Seabra and his team have discovered that “patients have choroideremia REP-1 protein produced from the CHM gene whose mutations cause the disease.” Based on gene therapy, conducted a clinical trial involving the injection of a small virus that carries the CHM gene in retinal cells of patients. The virus produces the REP-1 protein missing in these cells and thus prevents the advance of retinal degeneration

The work of the authors state that “the first results published in 2014 are very positive:. Several patients showed improvements real in your vision. It is expected that in the next five years, gene therapy will be a widespread curative treatment for patients with choroideremia. If so, this genetic disease is one of the first in the world that it can be treated curatively and not only symptomatic, opening ways for curing other genetic diseases of ocular disorders. “

The team of Miguel Seabra, who is also professor of the Faculty of Medical Sciences, New University of Lisbon and one of the leading scientists International in molecular and cellular medicine area, is composed of researchers Tatiana Tolmacheva, Sara Maia and Cristiana Pires.

According to the Foundation, the Bial Award of Clinical Medicine in 2014 distinguished research work coordinated by Jorge Poland, professor of Medicine, University of Porto, in collaboration with doctors Luís Martins, Jorge Cotter, Fernando Pinto and José Nazareth

“The problem of salt in Portugal in the last decade:. Evaluation of consumption salt, the food sources, the relationship with cardiovascular disease, health policies and benefits in 10 years “is the result of a decade of pioneering works that combine scientific research to public health intervention strategies.