Genetic Variants and Infectious Disease
When our clients come to us to interrogate their genomic data, the range of research questions that can be asked is limitless, but identifying single point mutations (SNPs) is a popular task. You may have heard of genetic variants that make people naturally resistant to certain diseases or viruses. Two great examples are the PCSK9 gene which moderates cholesterol for a reduced risk of heart disease, and the CCR5 mutation that provides innate resistance to HIV.
However, some genetic variants have the reverse effect, and make individuals more susceptible to certain viruses. A recent paper in Cell uncovered a mutation in the ERAP1 gene that increases susceptibility to the influenza (or flu) virus.
New Single Cell Method Identifies Genetics of Infectious Disease Susceptibility and Resistance
The authors created a high throughput single cell protocol (scHi-HOST) to identify genetic variants that can confer either resistance or susceptibility to a pathogen of interest. Applied to the influenza A virus, the scHi-HOST method identified a missense SNP in the ERAP1 gene. When tested both in vitro and in human challenge, the ERAP1 mutation increased the viral burden in cells, demonstrating that it increases viral susceptibility.
The authors hope that scHi-HOST can be applied across a number of infectious diseases. Understanding the genetics of susceptibility and resistance to infectious diseases could be extremely useful for patient stratification, identifying higher-risk patients in healthcare contexts and beyond. The genetics can also be extrapolated into research on the cellular mechanisms behind the susceptibility or resistance, providing new treatment or vaccine targets.
Outsourcing Bioinformatics Analysis: How We Can Help
The applications of single cell technologies and precision medicines are innumerable, and our clients are at the forefront of tackling these research questions with sophisticated bioinformatics approaches. However, transforming raw sequence data of any kind into actionable biological insights is no small feat.
As experts across data types from cutting-edge sequencing platforms, we can help you tackle the challenging computational tasks of storing, analyzing and interpreting genomic data. Bridge Informatics’ bioinformaticians are trained bench biologists, so they understand the biological questions driving your computational analysis. Click here to schedule a free introductory call with a member of our team.
Jane Cook, Biochemist & Content Writer, Bridge Informatics
Jane Cook, leading Content Writer for Bridge Informatics, has written over 100 articles on the latest topics and trends for the bioinformatics community. Jane’s broad and deep interdisciplinary molecular biology experience spans developing biochemistry assays to genomics. Prior to joining Bridge, Jane held research assistant roles in biochemistry research labs across a variety of therapeutic areas. While obtaining her B.A. in Biochemistry from Trinity College in Dublin, Ireland, Jane also studied journalism at New York University’s Arthur L. Carter Journalism Institute. As a native Texan, she embraces any challenge that comes her way. Jane hails from Dallas but returns to Ireland any and every chance she gets. If you’re interested in reaching out, please email daniel.dacey@old.bridgeinformatics.com or dan.ryder@old.bridgeinformatics.com.
