Genetic diseases that puzzle lab scientists worked on by quantitative biologists

In case of rare genetic disorders, that means analyzing loads of data from multiple patients to understand how their genes work in tandem with each other. There has been a growing understanding that gene function is often context-dependent, with a large part of that context supplied by the activities of other genes. Jongco's idea of sifting through the patients' genes in hopes of finding some keys to personalized care was an inspiring undertaking. One version is caused by a mutation in several genes with the cryptic names CYBA, NCF1, NCF2, and NCF4, and is called CGD. The other is triggered by a gene with an equally cryptic name CYBB, which resides on the X chromosome, hence the name XCGD. This version affects primarily boys because they have an X and a Y chromosome, while girls have two Xs and have smaller chances of developing the disease. The disease variability led scientists to think that while the CYBB gene might be the XCGD's main culprit, it also has accomplices-other genes that play a role. "Over the past few years, there has been a growing understanding that gene function is often context-dependent, with a large part of that context supplied by the activities of other genes," Gillis says. As more patients arrive, the data pool will grow and the algorithms should be able to tease out some tale-telling patterns, which would allow Jongco to treat his patients with better precision.