Rare diseases induced by changes in single genes' function can be chronically debilitating and life-threatening. From symptom analysis to molecular aetiology assessment, genomics is driving a fundamental shift in rare disease diagnosis. Understanding the biological foundation of disease can lead to better treatment and care, with predictable, evidence-based outcomes.
Epigenetics is the study of heritable and persistent changes in gene expression caused by chromosomal changes rather than DNA sequence changes. Epigenetic mechanisms can affect gene expression by chemical alterations of DNA bases and changes to the chromosomal superstructure in which DNA is packaged, despite not directly modifying the DNA sequence. Epigenetic mechanisms are a variety of gene-control systems that operate independently of genetic sequences. Epigenetics is the study of a variety of "readers," "writers," and "erasers" who play important roles in development, health, and disease. Epigenetics' role in rare diseases is one of its most essential aspects.