Today rare diseases affect millions of people, of all ages, around the world. However, there are countless others who are affected or at risk but remain undiagnosed and unaware of their disease. Rare diseases are frequently serious and life altering while many are life threatening or fatal.聽 ...
Rare diseases are complex; with over 7,000 such conditions known, 80% are genetic disorders and 50% of those affected are children, with many of the disorders being exceptionally rare. A patient will often present symptoms associated with more common conditions, which is why they can be so d...
Witness #RareInCommon Our 2017 Emmy-nominated documentary,Rare in Common, follows the experiences of rare families: their struggles, their strength, and their hope for the future as they confront the challenges of living with a rare disease. ...
A RARE disease, sometimes referred to as an orphan disease, is any disease that affects a small percentage of the general population. Though classified as rare, these diseases impact a surprisingly large number of people a...
Recognized as the most common inherited from of intellectual disability (ID) and the most common known monogenic cause of autism spectrum disorders (ASD), ... X Jin,C Li - 《Intractable Rare Dis Res》 被引量: 8发表: 2015年 Challenges and opportunities in the studies on rare diseases Accord...
In conducting trials with pediatric patients in this space, Albireo faces four challenges common to developers of pediatric rare disease drugs. The first is the lack of a natural history of the disease. The second is determining the study design and appropriate endpoints for the trial. The next...
Adults with rare autoimmune rheumatic diseases face unique challenges and struggles to navigate health-care systems designed to manage common conditions. E... RJ Hollick,WRG James,A Nicoll,... - 《Lancet Rheumatology》 被引量: 0发表: 2024年 Addressing the psychosocial aspects of transition to adu...
A rare disease is a disease that affects only a small portion of the population. However, rare diseases are ...
Background: Caregiving experiences in rare diseases (RDs) vary based on factors such as specific clinical entity, disease severity, the child’s age, and available support and resources, leading to challenges that significantly impact caregivers’ lives. This study investigates whether caregivers of ch...
TRACK 1: Rare Diseases and Orphan Drugs: Rare diseases affect a small percentage of the population but collectively impact millions worldwide. Orphan drugs, developed specifically for these conditions, face unique challenges due to the limited market size. However, incentives such as the Orphan Drug...