Author Archives: Alice Melão

The National Institutes of Health will support 13 research projects to develop 3-D models called “tissue chips” that recreate the complex biologic mechanisms of chronic kidney disease and several other disorders. The awards, totaling $15 million annually, will finance the first two years of a five-year program to test potential therapies, expand knowledge…

Chinese researchers have produced an overview of Alport syndrome that looks at the genetic disease’s primary symptoms — from kidney disease to hearing problems and eye abnormalities — and current treatments. Their report, “Renal, auricular, and ocular outcomes of Alport syndrome and their current management,” was published in the journal…

Researchers have identified two mutations of the COL4A3 gene that appear to be linked to the development of a mild form of autosomal recessive Alport syndrome, or ARAS. The study, “A case of mild phenotype Alport syndrome caused by COL4A3 mutations,” was published in the journal CEN Case Reports.

Researchers at Florida’s University of Miami (UM) and the University of Cyprus in Nicosia have received $100,000 each to continue research on Alport syndrome. Both studies aim not only to shed light into the underlying mechanism of this disease, but also to help identify potential cures. The funding program is a collaboration among the Alport Syndrome…

Genetic screening helps in diagnosing Alport syndrome, a difficult-to-diagnose disease, although its rate of success is still far from ideal and mutations in at least one-fifth of all patients are not identified. But state-of-the-art genetic screen techniques, such as whole-exome sequencing, seem to offer better chances of success, according to a study published…

RG-012, a drug to treat renal function decline in patients with Alport syndrome, is moving into Phase 1 clinical trial, says its developer, Regulus Therapeutics. The company, based in La Jolla, Calif., expects this new trial to overcome the setback announced last November on its RG-012 Phase 2 study,…