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…
Scientists have discovered, in a Chinese patient, new mutations in the DGKE gene that can cause atypical hemolytic uremic syndrome (aHUS), a case report shows. These new mutations expand current knowledge of this gene in the context of aHUS, and highlight potential racial differences in DGKE genetic…
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…
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…
Advancements in diagnosis and disease characterization are needed in Canada to improve the clinical outcomes of adults and children with atypical hemolytic uremic syndrome (aHUS), a registry study suggests. While strides have been made in the last several years, more work needs to be done, particularly in enabling access…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Patients who have symptoms that indicate severe atypical hemolytic uremic syndrome (aHUS) should be diagnosed as quickly as possible so that treatment with Soliris (eculizumab), a potentially life-saving agent, can be initiated promptly, a case study suggests. The study, “Eculizumab for Severe Thrombotic Microangiopathy Secondary to…
The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…
Understanding the disease-related alterations in a large gene cluster that lead to atypical hemolytic uremic syndrome (aHUS) may help in diagnosing and treating the illness, a recent review suggests. The study, “CFHR Gene Variations Provide Insights in the Pathogenesis of the Kidney Diseases Atypical Hemolytic Uremic…
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