News

March 20, 2020March 20, 2020

Global Rare Disease Group’s Focus: 1,000 New Therapies by 2027, Despite COVID-19

News

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 ... Read more

March 13, 2020March 13, 2020

2 New Mutations in Mitochondrial Genes Linked to Complex I Deficiency

News

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, ... Read more

March 12, 2020March 12, 2020

Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds

News

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 ... Read more

March 6, 2020March 6, 2020

New Mitochondrial Gene Mutation Speeds GRACILE Progression, Study Shows

News

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 ... Read more

March 5, 2020March 5, 2020

Video: BioNews’ Social Media Campaign Highlights #WhatMakesMeRare

News

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 ... Read more

March 2, 2020March 2, 2020

Elsevier Opens Books, Review Articles to Rare Disease Researchers Starting Feb. 29

News

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, ... Read more

February 28, 2020February 28, 2020

Advice on Starting Nonprofit Groups for Rare and Other Diseases Focus of NORD Webinar

News

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. ... Read more

February 21, 2020February 21, 2020

Patients, Supporters Worldwide Recognizing Rare Disease Day 2020

Mitochondrial disease, News

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 ... Read more

February 21, 2020February 21, 2020

Elamipretide Improves Physical Fitness Compared to Natural Disease Course in Barth Syndrome, Analysis Shows

News

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 ... Read more

February 14, 2020February 14, 2020

Gene Discovery in Fruit Fly Study May Help Uncover Treatments for Mitochondrial Disease in People

News

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 ... Read more