Genetic Architecture and Developmental Consequences of Conditionally Functional Mutations

NIH RePORTER · NIH · R35 · $370,075 · view on reporter.nih.gov ↗

Abstract

Project Summary Most traits, including complex diseases like diabetes, psychiatric disorders and cardiovascular disease, have a strong genetic component. However, how individual alleles affect trait expression may depend on genotypes at other loci, or on aspects of the environment. The proposed research seeks to elucidate the extent and nature of conditionally functional mutations in the determination of complex traits, using the developmental and genetic model organism C. elegans. This worm is amenable to high- throughput, automated phenotyping methodologies, which permit sufficient replication to detect the potentially subtle effects of natural allelic variants. Thus, the work leverages the resources in an experimental model system to ask questions about the functional consequences of natural genetic variation. By working at the interface of quantitative and model system genetics, this research aims to improve our understanding of complex trait architecture as well as provide new insight into the genetic and developmental mechanisms that lie between genotype and phenotype.

Key facts

NIH application ID
9949719
Project number
5R35GM119744-05
Recipient
GEORGIA INSTITUTE OF TECHNOLOGY
Principal Investigator
Annalise Bloss Paaby
Activity code
R35
Funding institute
NIH
Fiscal year
2020
Award amount
$370,075
Award type
5
Project period
2016-09-08 → 2023-05-31