Author Archives: Mary Chapman

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

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…

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…

Kevin Schaefer hadn’t been in an airport since he was 4 years old, so he had been looking forward to flying from his home in Cary, North Carolina, to Anaheim, California, in June for the 2019 Cure SMA Conference. As it turned out, his experience didn’t go as expected.

From walks and runs, to discussions and illuminated landmarks, a myriad of activities are on tap around the world for Global Mitochondrial Disease Awareness Week, slated for Sept. 15 to 21. Largely coordinated by International Mito Patients (IMP), a network of national patient organizations involved in mitochondrial…

An interdisciplinary University of Arkansas research team has been awarded a grant by the National Institutes of Health to find better and faster diagnostic tools for mitochondrial diseases. The team — led by Kyle Quinn, assistant professor of biomedical engineering, and Shilpa Iyer, assistant professor of…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

Owing to its commitment to mitochondrial medicine, the Icahn School of Medicine at Mount Sinai has been designated a certified Mitochondrial Medicine Center by the Mitochondrial Care Network (MCN). The network, a growing collaborative founded by multiple national mitochondrial disease advocacy organizations, also named as field leaders Mount…