More rare conditions are discovered as we learn more about the human body and genetics. For example, shares an article in Medical XPress, a research team from the University of California San Diego School of Medicine and the Rady Children’s Institute of Genomic Medicine recently described a new clinical syndrome in literature. Published in Brain, the research study centered around nine children with unique symptoms who were eventually found to have a new pediatric rare disease called Neuro-Ocular DAGLA-related Syndrome (NODRS).
Discovering a New Rare Disease
Each of the nine children included in the study was found to have de novo truncating variants in the last DAGLA exon. As the study describes, the children had:
a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All children displayed paroxysms of nystagmus or eye deviation accompanied by compensatory head posture and worsened incoordination most frequently after waking.
Normally, DAGLA helps produce an enzyme which plays a role in the endocannabinoid system. The study explains that:
the endocannabinoid system is a highly conserved and ubiquitous signaling pathway with broad-ranging effects. Despite critical pathway functions, gene variants have not previously been conclusively linked to human disease.
Normally, DAGLA plays a role in producing an enzyme that plays a role in this signaling. The signaling pathway aids neural development and repair. Although enzymatic activity was preserved in the nine children studied, the researchers believe that the DAGLA variants could play a role in some sort of related protein dysfunction.
Of course, DAGLA, and NODRS as a whole, have to be further studied. Now that endocannabinoid system dysfunction has been conclusively linked to disease, researchers can work to better understand the underlying mechanisms behind NODRS, as well as other conditions which could potentially be caused by endocannabinoid system signaling disruptions. Additionally, this could help researchers work towards a better understanding of cannabinoids and health for future potential therapeutic development.