X Chromosome research receives media attention from Nature Medicine

Our research on the X chromosome has recently been highlighted by an editorial article in Nature Medicine, titled “Accounting for sex in the genome”. More accessible than the average journal publication, this summary has gone on to spread through numerous social media pages, sparking worldwide discussion about the unique value of X chromosome research.


This research spotlight emphasized the importance of assessing genetic variation on the X chromosome in the study of complex disease while noting important pitfalls and future directions for the field. They note that the vast majority of genome-wide association studies either completely omit the X chromosome, or do not apply any specialized approaches to take the eXentricities of sex chromosomes into account. Our XWAS toolset was prominently featured as a method to manage the complexities of analyzing the X chromosome in genome-wide studies and identify new genetic associations with complex disorders.

For instance, our lab’s previous research identified a novel association between inflammatory bowel disease (IBD) and a genetic variant in the COSMC gene located on the X chromosome. This finding led to follow-up studies in mice by a group at Harvard, which revealed sex differences in gut inflammation and parallel changes to the gut microbiome upon deletion of Cosmc. Although still in the initial stages of validation, this particular line of discovery highlights the potential of X chromosome research in identifying the molecular underpinnings of disease biology.

As we begin to realize the importance of sexual dimorphism in the manifestation and treatment of complex disorders, assessing the contribution of sex chromosomes to disease risk will inevitably prove an important avenue for novel discoveries. It seems the scientific world is beginning to take note.