Patients with ultrarare diseases present unique challenges to the health care systems of
developed economies that demand novel approaches, beginning with achieving a …

In recent years, a small number of people with rare diseases caused by unique genetic
variants have been treated with therapies developed specifically for them. This pioneering …

Objectives There are more than 6000 heterogeneous rare diseases and little is known about
shared experiences of affected individuals in everyday life and healthcare. Objective of this …

A call to arms against ultra-rare diseases | Nature Biotechnology Skip to main content Thank
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Background It is estimated that there are over 16.8 million rare disease patients in China,
representing a significant challenge for the healthcare system and society. Rare disease …

Background Rare diseases are a priority objective for public health systems. Given its
complexity, late and misdiagnoses occur very often which causes mental and physical …

Thanks to the advent of genomic sequencing and numerous personalized medicine
initiatives in various medical centers, it is now known that there are many patients who have …

Background Individuals with rare diseases (RD) have been historically understudied.
Previous publications reported that existing primary health care (PHC) workforces and …

Background: Childhood nephrotic syndrome is a rare kidney disease characterized by
sudden onset of edema, massive proteinuria, and hypoalbuminemia. Rare diseases can …

Introduction/Objectives: Individually rare, rare diseases are collectively common resulting in
frequent health system use. Navigating the health system persists as a challenge. Primary …