Rare diseases: power in numbers
نویسنده
چکیده
Genetics is an area of biology that focuses on the study of heredity and the investigation of inherited characteristics. In the past twenty years, initiatives such as the Human Genome Project have enabled us to amass great knowledge on the relationships between genes, mutations and the molecular pathways that are involved in disease diagnosis and prognosis. Nevertheless, there are still a number of diseases that are either misdiagnosed or for which no genetic diagnosis exists, adding stress to the lives of patients and their families. Some of these diseases and disorders are rare, affecting less than 1 in 2,000 individuals, resulting in perhaps diminished interest in finding an effective cure for them.
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