MOAB Functional Analysis Pilot Projects Advance Basic Science

The Utah Genome Project (UGP) understands the need for scientists to explore how genetic mutations identified from sequencing patients cause disease. The gold standard for doing this is with model organisms, but finding the right model organism, creating the gene mutation, and studying its effect on biological processes is easier said than done. In this effort, the UGP established the Model Organism Advisory Board (MOAB) to help facilitate the creation of functional gene studies in appropriate model organisms to continue the forward momentum of basic and translational research.

The UGP and its MOAB instituted the Functional Analysis Pilot Grants to translate genome sequencing results. These projects advances candidate human disease-causing variants through functional studies with the goal of assessing the impact of each variant on gene function, as well as on the organism’s health.

“The goal of MOAB is to match our clinical scientists with our basic scientists, so that together they can find the right model organism for the right project to keep advancing their research,” said Charles Murtaugh, PhD, PhD, director of Model Organism Advisory Board. “I am incredibly excited about our five funded projects, because they have the potential to take findings that began with a small number of patients and translate them into medical discoveries that could broadly improve patient health and wellbeing.”

The funded projects receive approximately $20,000 and span an array of topics, from congenital diaphragmatic hernias to pediatric bipolar disorder. The 2018 awardees are:

  • Efficient functional analysis of mutations in candidate genes causing congenital diaphragmatic hernias

        Gabrielle Kardon, PhD, Human Genetics

  • Phosphatidylinositol kinase in brain development

        Nicola Longo, MD, PhD, Pediatric 

  • Understanding the genetic and neurolobiological basis of pediatric bipolar disorder

        Alex Shcheglovitov, PhD, Neurobiology and Anatomy

  • An In Vivo zebrafish myelin reporter for Leukodystrophy screening

        Joshua Bonkowsky, MD, PhD, Pediatric Neurology

  • Generation of a mouse model of arthritis using a proinflammatory human osteoarthritis susceptibility allele

        Mick Jurynec, PhD, Orthopaedics

Through MOAB, the UGP hopes to accelerate not only successful extramural grant applications, but also enhance the functional and translational significance of potential discoveries.

About the Author:

Stacy W.