new: "A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration"

Figure 2 from the paper.

Some things that affect our lives are too complex to be called a disease and called a syndrome. Or as this paper explains: "A disease may initially be called a syndrome to describe a collection of symptoms." Understanding the problem in enough detail that the collection of symptoms can be understood is often not trivial. Rett syndrome is one such situation, and mapping out all the aspects of it is needed for complex diseases to find a solution (cure or just something to address the resulting symptoms).

Rett syndrome has one gene strongly associated, MECP2, but not every change in this gene is a problem. And there are thousands of changes. Friederike Ehrhart just published work on creating a knowledge base of 10,968 MECP2 variants of which 863 are Rett causing (doi:10.1038/s41597-020-00794-7). That is a lot of biology.

However, because science is currently neither FAIR (enough) nor Open (enough) getting the knowledge together on these thousands of variants is a significant amount of work. That did not stop Ehrhart and co-authors. My contributions to this work are only minor: I know almost nothing about Rett syndrome. Instead, I contributed only to data structure and metadata standards, but if that helps others to get better insight into an disease or syndrome, I do such gladly.