The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases.

ABSTRACT: Drosophila melanogaster is a unique, powerful genetic model organism for studying a broad range of biological questions. Human studies that probe the genetic causes of rare and undiagnosed diseases using massive-parallel sequencing often require complementary gene function studies to determine if and how rare variants affect gene function. These studies also provide inroads to disease mechanisms and therapeutic targets. In this review we discuss strategies for functional studies of rare human variants in Drosophila. We focus on our experience in establishing a Drosophila core of the Model Organisms Screening Center for the Undiagnosed Diseases Network (UDN) and concurrent fly studies with other large genomic rare disease research efforts such as the Centers for Mendelian Genomics. We outli

SUBMITTER: Bellen HJ 

PROVIDER: S-EPMC6872428 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature