Biology of rare genetic disorders

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively common. Understanding the genetic basis of a rare disorder, in other words finding the gene that is altered in affected individuals, is a crucial first step towards understanding the disease mechanism at the molecular level. This can enable research with the long-term aim of developing targeted therapies and provide new insights into the normal function of the gene and the pathways in which it operates.

With this Collection, Nature Communications, Communications Biology, npj Genomic Medicine and Scientific Reports aim to publish research Articles that provide significant new insights into the biology of rare genetic disorders. This includes, but is not limited to, studies identifying new disease genes (supported by genetic findings in multiple unrelated families and including mechanistic follow-up using an animal model and/or disease-relevant human cell type), identification of factors underlying phenotypic heterogeneity, studies providing new insights into treatment strategies, and relevant innovative bioinformatic methods. We will also consider Reviews, Perspectives, and Comments addressing these topics. Case reports will not be considered.

This Collection supports and amplifies research directly related to:
SDG 3 - Good health and well-being