Recently, a paper was published in the journal ‘Nature’ about genetic variants in the RNU4-2 gene, a prevalent cause of undiagnosed neurodevelopmental disorders. In this special blog post, Nicky Whiffin, the researcher who discovered this, aims to break down the important aspects of this work for those who are not used to reading academic papers or who may not be that familiar with genetics, as well as to highlight some significant implications of this discovery. To read the blog, click the link below:

https://rarediseasegenomics.org/blog/rnu4-2-the-small-gene-with-a-very-big-impact