Newborn screening programs are the best way to diagnose Fabry disease early in infancy — enabling timely enzyme replacement therapy before the disease causes tissue and organ damage — and potentially lead to the diagnosis in other family members, a study suggests. Such a program in western Japan estimated a…
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…
Fabry disease is a rare genetic disease that results from abnormal buildup of a type of fat called globotriaosylceramide (Gb3 or GL-3) inside cells and tissues. Gb3 accumulation can cause a wide range of symptoms, which can pose problems for travelers who have the disease. Here are some tips…
Feb. 29 wasn’t just leap day, it also was Rare Disease Day. I wrote in a previous column about See Rare Run, a virtual race to raise awareness for people with rare diseases. Finally, the day had come to run for this great cause. Unfortunately,…
In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…
Fabry disease is a rare genetic disease in which mutations in the GLA gene lead to the accumulation of a type of fat called globotriaosylceramide (Gb3 or GL-3) in cells and tissues. Fabry disease affects multiple organs, and many patients experience Fabry crises, intense episodes…
PRX-102 (pegunigalsidase alfa), Protalix BioTherapeutics’ investigational enzyme replacement therapy, led to clinical improvements in adults with Fabry disease, according to data from two Phase 1/2 trials. The therapy lowered both kidney globotriaosylceramide (Gb3) inclusions and blood levels of Gb3, showing that it reaches affected tissues, and…
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar. William Whitman…
Being diagnosed with a chronic illness is stressful. Add to that the fact that most people, including many doctors, have never heard of many rare diseases, and the process becomes completely exhausting. I can’t tell people that I have Fabry disease and leave it at that because few have any…
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