Mission and Foci
Since our founding, the mission of the Department of Human Genetics has been to uncover the genetic bases of health and disease, as well as of evolution and development, by employing combinations of innovative experimental and computational approaches. A vital component of our academic enterprise is to disseminate our new knowledge through teaching and mentoring. We seek to grow our faculty with diverse and creative individuals who will build collaborations that integrate and expand existing strengths and inspire us to take bold steps in new directions that address the most important questions in basic and translational genetics. These include, but are not limited to:
How are genes organized and regulated to control functions of cells, tissues, and whole organisms?
How does genetic variation lead to individual and population diversity of form, function, disease, and response to environmental challenges?
How can genome science/big data promote discovery science and inform individual and community medical decision making?
We have five primary areas of focus
Genetics of Health and Disease
The Department of Human Genetics has a long and distinguished history of discovering and characterizing genes that influence human health and disease. This research has benefitted from resources such as the Utah Population Database, the world’s largest collection of multigenerational pedigrees linked to medical records. Through institutional initiatives that include the Utah Genome Project and the Center for Genomic Medicine, thousands of pedigree members are undergoing whole-genome and exome sequencing to identify genes that underlie Mendelian and common, complex diseases. These efforts are broadly collaborative, integrating nearly every department in the School of Medicine. Our research also spans a wide range of activities, including computational analysis of large genomic datasets, functional analysis of candidate genes using in vitro and in vivo models, and translation of research findings to improve disease diagnosis and treatment. This research is enhanced by a rigorous evolutionary framework in which we are informed by countless natural experiments in a wide variety of species, including our own.
As our department continues to expand in this rapidly developing area of research, we will seek faculty who value broad collaborations across basic and clinical science. We will encourage fresh, innovative technology development that will improve human health and reduce the burden of disease.
Technological advances have always driven discovery. New DNA sequencing technologies have enabled unprecedented studies of genetic variation, genome mutation, and gene regulation. As a result, genetics research has rapidly transitioned from a low-throughput to an incredibly data-rich discipline, generating enormous, complex datasets. Therefore, equally important are computational advances in algorithms, data formats, and software that have allowed new molecular approaches to be used in diverse studies of genome biology.
Research in computational genetics and data science is vital to a deeper understanding of the connection between genotypes and phenotypes. For example, it remains unclear how to integrate large, heterogeneous "multi-omic" datasets from the same organism or experimental condition to examine cellular state or the abundance and diversity of expressed proteins. Similarly, while the potential is enormous, we lack efficient methods to integrate genome, phenotype, and health record data to predict disease risk and future phenotypes. Progress in these areas will necessarily bridge mathematical, algorithmic, imaging, and visualization techniques and require researchers with deep, interdisciplinary expertise.
Our Department has built a strong foundation in bioinformatics and computational genomics. Moving forward, we will recruit scientists who excel at the development of computational and molecular methodologies that advance our understanding of genome biology and the impact of genetic variation on an organism's fitness and phenotypic diversity.
Evolutionary Genetics and Genomics and Human Population Diversity
Evolutionary genetics offers a versatile framework for gaining biological insights from vast surveys of genome-scale information. Comparisons of variation among populations and species can reveal patterns and principles of the organization of life. Rules by which organisms interact and secure resources are written in genomes, the results of random and natural experiments since the origins of life. Evolutionary genetics interprets the countless experiments embedded in nature’s fragmented records over millions of years in order to gain deep insights into biological form and function.
We envision a department with a growing appreciation of the origins and consequences of variation within and between species, including variation in traits that affect health and disease. Active areas of inquiry in the Department currently include the evolution of disease resistance, host-pathogen interactions, patterns of molecular coevolution, adaptive evolution, and evolutionary variation between species and between humans. Key focal areas for further development include developing a comprehensive understanding of diverse human populations; performing comparative work in nontraditional research organisms, including through the development of new genomics and phenomics; experimental evolution; evolutionary theory; and investigating how ecological relationships have shaped the evolution of the genome.
Functional Genetics and Genomics
The major goal of functional genetics and genomics is to understand mechanistically how genes control fundamental biological processes. To carry out such mechanistic studies, we have built a strong community of experimental biologists who use a variety of established model organisms - fruit flies (Drosophila), round worms (C. elegans), zebrafish, chicken, and mice - and also unconventional organisms, such as butterflies and manatees. Harnessing the unique strengths of each of these systems, we use forward genetic screens to identify novel genes as well as reverse genetics to test the function of candidate genes. Using these tools, we are uncovering the mechanisms regulating development and regeneration, homeostasis and aging, physiology and metabolism, and behavior. We look forward to welcoming faculty who bring creative and innovative approaches to functionally dissecting diverse biological processes.
A vital component of our academic enterprise is preparing the next generation of researchers. We pride ourselves on the high-quality training and mentoring that we provide for students in our PhD program. Faculty members actively participate in teaching courses and in journal clubs and RIPs, as well as leading the combined Molecular Biology graduate program.
We also participate in preparing the next generation of healthcare professionals.
Our 2-year, Master’s of Science Graduate Program in Genetic Counseling graduates approximately 10 students/year, who work in a wide variety of clinical and expanded genetic counseling roles across the country. The program provides a highly supportive and collaborative educational environment, involving faculty from multiple departments on the health sciences and main campus.
Human Genetics faculty are encouraged to participate in medical student education, where they contribute their expertise in basic science. Many faculty serve as facilitators for case-based learning groups and the Layers of Medicine, medical arts and humanities discussion groups. Several faculty members serve as course directors, leading a topic-focused course that integrates basic and clinical sciences.
We recognize that it is essential to spark students’ interest in science and science careers well before they enter graduate school. Our Genetic Science Learning Center’s mission is “making science and health easy for everyone to understand.” The Center fosters science literacy in K-12 and higher education students, educators, and members of the public via its Learn.Genetics and Teach.Genetics websites, which likely constitute the most highly-used online life science education resource in the world.