Endometriosis: An Understudied Disease
It’s a common story: a patient suffers for years from severe abdominal pain, infertility, and other debilitating symptoms before they get a diagnosis of endometriosis. Endometriosis affects around 10% of individuals born with a uterus (~175 million people), but is one of the most poorly studied diseases in terms of its underlying molecular biology.
However, some of the factors that have made endometriosis historically more challenging to study make this condition particularly suited to analysis with single-cell genomic and transcriptomic techniques. Endometriosis is defined by relatively small tissue lesions but comprises multiple cell types (epithelial and stromal), which can be dissected at single cell resolution.
Applying Single Cell -Omics to Endometriosis and Beyond
A research briefing published this week in Nature Genetics highlighted this understudied disease, bringing into focus a recent Nature Genetics paper of a single-cell transcriptomic profile of endometriosis. The authors sampled multiple affected and unaffected related tissue types in 21 patients, 17 of whom had endometriosis.
scRNA-seq uncovered significant transcriptional differences between endometrial-type epithelial and stromal cells, despite these cell types sharing many histological features. Being able to differentiate between these cell types so easily provides avenues for finding biomarkers unique to those cell types.
The authors also found that lesions sampled from the ovary (endometriomas) and lesions sampled from the abdominal lining (peritoneal lesions) have extremely different patterns of gene expression, and that treatment-wise will likely need to be treated almost as two separate disease entities.
Endometriosis is of particular concern not just because of its associated symptoms, but because of its likely link to ovarian cancer. This study and emerging studies like it will build an important foundation for new research into therapeutics for endometriosis.
Outsourcing Bioinformatics Analysis: How Bridge Informatics Can Help
The constantly improving ease and lowering cost of genomic and transcriptomic technologies allows for previously understudied diseases to finally be characterized. Many of our clients at Bridge Informatics are at this cutting edge of research, using sophisticated bioinformatics tools to tackle their research questions. From pipeline development and software engineering to deploying existing bioinformatics tools, Bridge Informatics can help you on every step of your research journey.
As experts across data types from leading sequencing platforms, we can help you tackle the challenging computational tasks of storing, analyzing and interpreting genomic and transcriptomic 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 jennifer.martinez@old.bridgeinformatics.com or dan.ryder@old.bridgeinformatics.com.
