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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) —…
New mutations in two mitochondrial genes, found through biopsies taken after years of complaints, led to mitochondrial complex I deficiency — with widely differing symptoms — being diagnosed in two patients, a case study reported. These findings highlight the importance of muscle biopsies taken to identify a disease, and to confirm…
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…
A new spontaneous mutation in the MT-CYB gene — which provides instructions for making a protein called cytochrome b that plays a key role in mitochondria — was found to accelerate the progression of GRACILE syndrome, a rare mitochondrial disease, a…
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…
Elamipretide (MTP-131) improves physical fitness in people with Barth syndrome, as compared to the natural course of the disease, according to a new comparison using data from the Phase 2/3 TAZPOWER clinical trial. Stealth BioTherapeutics, the company that is developing elamipretide and which funded TAZPOWER, plans to…
Scientists have discovered that the tam gene can be targeted to reverse the symptoms of harmful mutations in mitochondrial genes in a fruit fly study, a finding that may uncover therapies to treat mitochondrial diseases in people. The study, “…
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