| الوصف: |
Rare diseases (RDs) are defined in different countries or regions by their prevalence or the number of affected individuals. Although individually infrequent, it is estimated that, collectively, 6%–8% of the world population may suffer from an RD, that is, over 450 million persons. In addition to their global prevalence, they are a relevant public health problem since RDs are usually severe, chronic, and may cause disability and early death. Most RDs are of genetic origin, but their diagnosis can be elusive. This chapter summarizes the impact of massively parallel or high-throughput sequencing, bioinformatic tools, and the growing culture of data sharing in accelerating clinical diagnosis, discoveries, and therapeutic strategies. Several countries are gradually implementing policies and programs, but many challenges remain in equity in health-care access and in understanding, preventing, and treating these conditions. |