Thursday November 21, 2019

Gene Therapy Wins Big at Portugal’s Champalimaud Foundation

The foundation, which focuses on neuroscience and oncology research at its Lisbon base, was set up at the bequest of Portugal's late industrialist Antonio Champalimaud.

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Gene Theory
ean Bennett, Albert Maguire, Robin Ali, James Bainbridge, Samuel Jacobson, T. Michael Redmond and Portugal's President Marcelo Rebelo de Sousa attend the 2018 Antonio Champalimaud Vision Awards ceremony at Champalimaud Foundation in Lisbon, Portugal, VOA

Seven scientists in the United States and Britain who have come up with a revolutionary gene therapy cure for a rare genetic form of childhood blindness won a 1 million euro ($1.15 million) prize Tuesday, Portugal’s Champalimaud Foundation said.

Established in 2006, the annual award for work related to vision is one of the world’s largest science prizes, more than the latest 9 million Swedish crown ($987,000) Nobel Prize in Physiology or Medicine.

“This is the first, and still only, example of successful gene therapy in humans that corrects an inherited genetic defect and is therefore a milestone in medical therapeutics,” said Alfred Sommer, Dean Emeritus of the Johns Hopkins Bloomberg School of Public Health and chairman of the award jury.

Gene
Colour sensitivity can also led to Retinal Diseases/Blindness. Pixabay

One of those honored, Michael Redmond of the National Eye Institute in Maryland, had traced the cause of the disease, Leber congenital amaurosis (LCA), to a mutated gene.

Three cooperating research teams later managed to replace the gene in the eye, restoring vision to treated children and adults with one form of LCA and “enabling the entire field of gene therapy for human disease,” the foundation said.

These teams are comprised of U.S. scientists Jean Bennett and Albert Maguire; Samuel Jacobson and William Hauswirth; and Britons Robin Ali and James Bainbridge.

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Their gene augmentation therapy involved the delivery of healthy genes using engineered harmless viruses, described by the foundation as “an elegant solution.”

The foundation, which focuses on neuroscience and oncology research at its Lisbon base, was set up at the bequest of Portugal’s late industrialist Antonio Champalimaud who died in 2004. The first vision prize was awarded in 2006. (VOA)

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Researchers Find Cells Linked to Blindness in Elderly People

This study helps pinpoint cell types that can be investigated closely to develop new types of therapeutics

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Bindness
Age-related macular degeneration is one of the leading causes of Blindness in the elderly. Pixabay

A team of researchers have discovered cells that lead to progressive loss of central vision among the elderly.

Age-related macular degeneration is one of the leading causes of blindness in the elderly.

Genome-wide studies have identified almost three dozen genes that play a role in the disease, but exactly where in the eye they inflict damage was not well known.

Researchers from Yale University, the Broad Institute of the Massachusetts Institute of Technology, and Harvard University reported in the journal Nature Communications that glial cells (or support cells), and vasculature cells tasked with providing blood to the retina as well as cone cells contribute to degeneration of the macula, in the central part of the retina.

“This study helps pinpoint cell types that can be investigated closely to develop new types of therapeutics,” said Brian Hafler, assistant professor of ophthalmology and visual science and of pathology at Yale.

There are a limited number of effective long-term treatments available for the two forms of macular degeneration.

The wet form is caused by growth of abnormal blood vessels underneath the macula, which can be mitigated by regular injections in the eye.

Blindness
While genes associated with the risk of developing macular degeneration had been identified, the team used new single-cell sequencing to generate the first comprehensive human retinal atlas and employed data analysis technology to localize their effects to specific cell types associated with Blindness. Pixabay

Other than eye vitamin supplements, there is no treatment for the dry form of the disease, which is marked by accumulations of yellow deposits called drusen in the macula.

While current treatments provide some benefits, over time there can be a continued, progressive loss of vision in both forms of the disease.

While genes associated with the risk of developing macular degeneration had been identified, the team used new single-cell sequencing to generate the first comprehensive human retinal atlas and employed data analysis technology to localize their effects to specific cell types associated with the disease.

ALSO READ: Young Mothers Likely to Have Kids with ADHD: Study

While they found risk genes associated with cones, the cell type key to central vision, the researchers also found an association with glial and vascular cells — providing possible targets for novel therapies to improve and restore vision. (IANS)