News

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…

Japanese researchers have identified a factor that worsens kidney disease in Alport syndrome, just as it does in many other kidney diseases. Scientists could use the molecular changes they identified in a mouse model of Alport to develop treatments for the rare kidney disease, according to the Kumamoto University team. Previous…

The University of Massachusetts (UMass) Medical School is launching the Li Weibo Institute for Rare Diseases Research — an achievement made possible by a $10 million endowment gift from the Li Weibo Charitable Foundation in China. The UMass Medical School has…

An Alport syndrome expert will be among more than 80 speakers at this month’s Rare Disease & Orphan Products Breakthrough Summit in Washington. The two-day event, now in its sixth edition, will be hosted by the nonprofit National Organization for Rare Disorders (NORD). Expected to attract 550 to…

A case study of Alport syndrome will be the subject of an oral presentation and discussion at the 96th annual meeting of the American Academy of Optometry (AAO), Oct. 11-14 in Chicago. Titled “A Mutation in the Basement: Case Discussion of Alport Syndrome,” the case study will be…

Collagen deficiency in Alport syndrome leads to retina dysfunction due to changes in the retina’s cellular structure, finds a new study, “En face optical coherence tomography findings in a case of Alport syndrome,” that appeared in the Indian Journal of Ophthalmology. Alport is caused by a genetic…

In rare cases, Alport syndrome might affect the heart, as suggested by a case report of a woman who experienced a spontaneous coronary artery dissection (SCAD). The condition, which is also rare in other patient groups, had never been described in Alport before. But researchers at the University of South Dakota…

A new kind of microscope approach has revealed very fine structural details of the kidneys of mice with Alport syndrome, definition that may help scientists better understand the causes of the condition. Researchers published a study about the approach, called helium ion scanning microscopy, in the journal Scientific Reports. It was titled “…

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…