National Institutes of Health: NIH-supported research survey to examine impact of COVID-19 on rare diseases community

National Institutes of Health: NIH-supported research survey to examine impact of COVID-19 on rare diseases community. “For the millions of people living with a rare disease, the novel coronavirus disease COVID-19 presents challenges, from potential reduced access to needed medical care to possible heightened anxiety and stress. A new online survey launched by the National Institutes of Health-supported Rare Diseases Clinical Research Network (RDCRN) aims to find out how the COVID-19 pandemic is impacting individuals with rare diseases, their families and their caregivers. Results will help the rare disease research community shed light on the needs of people with rare diseases during the COVID-19 pandemic and other potential health crises, in addition to informing future research efforts.”

Titan Voice: Building online community and research database for families dealing with rare Blau Syndrome (Orange County Register)

Orange County Register: Titan Voice: Building online community and research database for families dealing with rare Blau Syndrome . “I was given a task to create a research database of journal articles involving Blau Syndrome. Prior to my creation of one, no research database existed for doctors, families, potential researchers, or individuals with Blau Syndrome. The database now contains nearly 60 peer-reviewed research articles on Blau Syndrome.”

Drugs .com: New Database Shows ‘Rare’ Diseases Are Not So Rare Worldwide

Drugs .com: New Database Shows ‘Rare’ Diseases Are Not So Rare Worldwide. “A disease is considered rare when it affects fewer than five in 10,000 people, according to a European definition. Until now, it’s been difficult to gauge how widespread rare diseases are. But a team led by a French research institute has analyzed the scientific literature on thousands of rare diseases and created a database that makes it possible to estimate how many people worldwide have them.”

Sixth Tone: China to Build Gene Database for Diagnosing Rare Diseases

Sixth Tone: China to Build Gene Database for Diagnosing Rare Diseases. “China launched its first major project aimed at diagnosing rare children’s diseases on Saturday. The country’s pediatric experts will use a technique called whole genome sequencing (WGS) to begin building a database of rare and undiagnosed conditions, including mental disorders and physical deformities.”

FDA: FDA Widens Scope of Navigator – Information Tool for Expanded Access

FDA: FDA Widens Scope of Navigator – Information Tool for Expanded Access. “FDA is committed to expanding access to safe and effective treatment options for patients with rare, debilitating, and sometimes fatal diseases. These patients face unique medical challenges. Sometimes there isn’t an FDA-approved drug to adequately address the needs of a patient with a rare disease. Therefore, the agency needs to take new steps to enable more patients with unmet needs to get access to promising treatments prior to full FDA approval. Two examples of the recent steps FDA has taken in pursuit of these goals are improvements we made to our Expanded Access Program and our Orphan Drug Program.”