The aims to investigate the genetic basis of human disease through genomic sequencing of Utah families to discover, understand, prevent and treat challenging medical conditions. In addition, 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 initiated a seed grant program to fund projects that span an array of topics, from osteoarthritis to familial suicide risk. Each grant was awarded up to $50,000 for one year. The 2018 awardees are:
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Rapid approaches for Leukodystrophy gene discovery and validation
Joshua Bonkowsky, MD, PhD, Pediatric Neurology
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Genetics of early-onset hip osteoarthritis
, Orthopaedics
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Examining understanding, attitudes, and communication about genomic data sharing policies to develop best practices
, Communications
, College of Law
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Contribution of NRXN1 variants to familial suicide risk
, Psychiatry
, Neurobiology and Anatomy
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Utah project on Exfoliation Syndrome (UPEXS): The eyes have it
, Internal Medicine
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Lineage: Integrating clinical and genetic data with genealogical records
, Psychiatry
Computer Science
鈥淭he Utah Genome Project contains a wealth of information,鈥 said , executive director of the Utah Genome Project Scientific Advisory Board at 91麻豆天美直播. 鈥淭hese seed grants will provide the initial support needed for our research teams to mine this vast resource to understand the genetic underpinning of disease, the critical pathways in disease progression, and development of new therapies to help patients.鈥
In addition, the UGP and its MOAB instituted the Functional Analysis Pilot Grants to translate genome sequencing results. 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:
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Efficient functional analysis of mutations in candidate genes causing congenital diaphragmatic hernias
, Human Genetics
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Phosphatidyl鈥inositol kinase in brain development
Nicola Longo, MD, PhD, Pediatrics
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Understanding the genetic and neurolobiological basis of pediatric bipolar disorder
, Neurobiology and Anatomy
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An In Vivo zebrafish myelin reporter for Leukodystrophy screening
Joshua Bonkowsky, MD, PhD, Pediatric Neurology
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Generation of a mouse model of arthritis using a proinflammatory human osteoarthritis susceptibility allele
, Orthopaedics
鈥淭he 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,鈥 said , PhD, director of Model Organism Advisory Board. 鈥淚 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.鈥
Through these funding opportunities, the UGP hopes to accelerate not only successful extramural grant applications but also enhance the functional and translational significance of potential discoveries.