Using to drive the diagnosis and understand the mechanisms of rare human diseases.

TitleUsing to drive the diagnosis and understand the mechanisms of rare human diseases.
Publication TypeJournal Article
Year of Publication2020
AuthorsLink, N, Bellen, HJ
Date Published2020 09 28
KeywordsAnimals, Disease Models, Animal, Drosophila melanogaster, Genetic Techniques, Human Genetics, Humans, Microcephaly, Rare Diseases

Next-generation sequencing has greatly accelerated the discovery of rare human genetic diseases. Nearly 45% of patients have variants associated with known diseases but the unsolved cases remain a conundrum. Moreover, causative mutations can be difficult to pinpoint because variants frequently map to genes with no previous disease associations and, often, only one or a few patients with variants in the same gene are identified. Model organisms, such as , can help to identify and characterize these new disease-causing genes. Importantly, allow quick and sophisticated genetic manipulations, permit functional testing of human variants, enable the characterization of pathogenic mechanisms and are amenable to drug tests. In this Spotlight, focusing on microcephaly as a case study, we highlight how studies of human genes in have aided our understanding of human genetic disorders, allowing the identification of new genes in well-established signaling pathways.

Alternate JournalDevelopment
PubMed ID32988995
PubMed Central IDPMC7541339
Grant ListR01 GM067858 / GM / NIGMS NIH HHS / United States
/ HH / Howard Hughes Medical Institute / United States
F32 NS092270 / NS / NINDS NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States
R24 OD022005 / OD / NIH HHS / United States