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Although typically not considered a cause of Alport syndrome, mutations in the LAMA5 gene, in combination with those in collagen IV (COL4) genes, can affect the clinical presentation and aggravate the severity of kidney problems linked to this disease, a study…

Some 100 advocates from kidney organizations around the country converged on Capitol Hill recently to press lawmakers to improve patient outcomes for the 30 million people living with kidney diseases, including Alport syndrome. Joined by 11-year-old singing ingenue and kidney transplant recipient Angelica Hale, activists from nearly all…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term impact…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Children with Alport syndrome showed significant thinning of the macula, the central part of the retina, among other eye changes, according to a study. The study, “Increased Subfoveal Choroidal Thickness and Retinal Structure Changes on Optical Coherence Tomography in Pediatric Alport Syndrome Patients,” appeared in the…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

Targeted gene therapy on cells that line the blood vessels — called endothelial cells — failed to restore production of normal collagen in a mouse model of Alport syndrome, a study reports. The study, “Endothelial Cell-Specific Collagen IV α3 Expression Does not Rescue Alport Syndrome in Col4a3-/-…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

A new variant (mutation) of the COL4A4 gene was identified as the cause of autosomal recessive Alport syndrome (ARAS) in a young Chinese woman, according to a case report. The women also inherited a mutation in…