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Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…
Two types of nerve cells, namely neurons and astrocytes, with Sanfilippo syndrome-like characteristics have been created by converting stem cells with disease-associated mutations, according to a study from researchers in Europe. Compared to cell lines currently used in Sanfilippo…
A multiplex test using a drop of dried blood can be used to screen newborns for eight different lysosomal storage diseases, including Sanfilippo syndrome, a new study shows. The study, “Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000…
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…
Medical records of children with diseases related to the buildup of glycosaminoglycans, including Sanfilippo syndrome, show that spinal fusion surgery helped to ease the damage associated with these conditions, a study reported.  Its researchers recommend early spinal cord decompression to prevent or reverse neurological injuries. …
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…
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…
Injecting BMN 250 — a potential enzyme replacement therapy for Sanflippo type B — directly into the fluid around the brain is a more effective way than intravenous infusion to get the treatment into the brain, a study in animal models suggests. The study, “Translational studies of…
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