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Omics in Rare Disease
Omics in rare diseases allows researchers to gain a comprehensive understanding into the pathogenesis of rare diseases from DNA, RNA and proteins that containing a huge amount of information by the application of various omics technologies, including genomics, epigenomics, transcriptomics, proteomics and metabonomics. The potential therapeutic targets are destined to be identified from the complex molecular networks and pathways.

DNA Abnormalities in Rare Diseases
Numerous disease-causing genes across rare disorders have been identified by genome and epigenome studies. The predominant cause of rare diseases is single gene disorder, while a growing number of the diseases are found to be linked to polygenic mutations. Thus these abnormalities can be stably inherited, especially within families. Epigenetic abnormalities in DNA may have a broad-spectrum implication. Typically, inactivated mutations in DNMT family affect the genome-wide methylation, leading to the Tatton-Brown-Rahman syndrome (TBRS).

RNA Abnormalities in Rare Diseases
RNA participates in various biological activities of cells under the guidance of DNA genetic information. The rate and quality of RNA synthesis directly affect the expression and function of proteins, thus affecting the state of cells. When RNA is processed to produce abnormally spliceosome, it can lead to the production of dysfunctional proteins. A typical example is the alternative splicings of TDP-43 are implicated in the neuron damages that resulted in amyotrophic lateral sclerosis (ALS).

Protein Abnormalities in Rare Diseases
Proteins are the major molecules in cells that ultimately perform biological functions. With the post translational modifications, the proteins may differences in enzyme activity, structural support, signal transduction, etc. For instance, defective posttranslational activation of all cellular sulfatases ascribed to the absence of formylglycine generating enzyme (FGE) gives rise to the multiple sulfatase deficiency (MSD), which is accompanied by mucopolysaccharidosis and sphingolipid storage symptom.

Source:https://www.protheragen.us/multi-omic-analysis-for-rare-diseases.html