Evgeny Kvon Awarded $2 Million NIH Grant to Study Genetic Causes of Congenital Limb Disorders

June 27, 2024
Evgeny Kvon

Assistant Professor Evgeny Kvon of the UC Irvine Charlie Dunlop School of Biological Sciences has recently received a substantial grant from the National Institute of Child Health and Human Development, totaling nearly $2 million over five years. This funding will support the research project, “Decoding the Mechanism of Pathogenic Enhancer Mutations In Congenital Limb Disorders.”

Professor Kvon’s work focuses on understanding how certain mutations, not in the genes themselves but in the non-coding regions that regulate gene activity, can lead to congenital limb disorders. Unlike mutations in the coding parts of DNA, which are relatively well understood, these regulatory mutations are less known but equally significant in causing congenital disorders.

Using advanced genomic technologies and specially developed mouse models, the Kvon lab aims to reveal how these mutations abnormally influence gene behavior, leading to limb malformations. This research is crucial for understanding limb disorders and sheds light on other conditions such as intellectual disabilities and autism, which are also known to be influenced by genetic disruptions of non-coding regions.

The core of the project involves a detailed study of “enhancer” mutations. These are variations in DNA that can incorrectly activate certain genes, leading to issues in how limbs form during development. For example, specific rare variants can cause extra digits to form, a condition known as polydactyly. Through innovative methods that allow observation of gene activation in live embryo models, Professor Kvon’s team hopes to map out exactly how these mutations lead to physical deformities.

This research holds the promise of not just advancing our understanding of genetic regulation but also improving our ability to predict and potentially treat these disorders. With the insights gained from this study, medical science could better anticipate the impacts of similar genetic variations, paving the way for targeted therapies and interventions.

The grant from the NIH underscores the significance of Professor Kvon’s research and its potential to positively impact public health.