Rare Diseases & Orphan Drugs

Genomics and Proteomics of Rare Disease

Despite our understanding of the inheritable mutations that uphold uncommon conditions, little is known about their cellular impacts. Because developments in genome sequencing have far surpassed the throughout in functional follow-up examinations, functional studies on rare conditions have fallen behind gene identification. Likewise, pharmaceutical and biotech enterprises have many impulses to invest in medicine exploration and development for conditions that only impact a small number of people. Rare conditions have always been delved at the cellular position on an individual base. A study published lately phenotyped a library of rare complaint-causing variations and their wild- type alleles in detail. Whole-genome sequencing can give sapience into the genetics of rare diseases; it can miss up to half of the cases that are screened. The experimenters discovered that integrating proteomics and genomics increases rare complaint individual delicacy.

• Protein Modification
• Protein Translation
• Genomic Studies
• Transcriptomics