Genomics and Proteomics of Rare Disease

Despite our understanding of the genetic mutations that underlie uncommon diseases, little is known about their cellular repercussions. Because developments in genome sequencing have far surpassed the throughout in functional follow-up investigations, functional studies on rare diseases have fallen behind gene identification. Furthermore, the pharmaceutical and biotech firms have few incentives to invest in drug research and development for diseases that only impact a small number of people. Rare diseases have always been investigated at the cellular level on an individual basis. A study published recently phenotyped a library of 2,890 rare disease-causing variations and their wild-type alleles in detail. Whole genome sequencing can provide insight into the genetics of rare disorders, it can miss up to half of the patients that are screened. The researchers discovered that integrating proteomics and genomics increases rare disease diagnostic accuracy.

• Protein Modification
• Protein Translation
• Genomic Studies
• Transcriptomics