Trainees must identify a mentoring team that includes one basic scientist, one physician-scientist, and one additional mentor from the mentor pool to enhance the trainee’s preparation for his/her career goals. Mentor teams will meet with the trainee twice yearly. Mentors are listed below.
Orly Alter, PhD, BSc, is a USTAR Associate Professor of Bioengineering and Human Genetics at the Scientific Computing and Imaging Institute and the Huntsman Cancer Institute at the University of Utah, and the principal investigator of an NCI Physical Sciences in Oncology U01 project grant. Inventor of the “eigengene,” she pioneered the matrix and tensor modeling of large-scale molecular biological data, which, as she demonstrated, can be used to correctly predict previously unknown physical, cellular, and evolutionary mechanisms. Alter received her Ph.D. in applied physics at Stanford University, and her B.Sc. magna cum laude in physics at Tel Aviv University. Her Ph.D. thesis on “Quantum Measurement of a Single System,” which was published by Wiley-Interscience as a book, is recognized today as crucial to the field of gravitational wave detection.
Josh Bonkowksy, MD, PhD, is an Associate Professor of Pediatric Neurology (Pediatrics) and of Neurology. His undergraduate training was at Harvard University; he obtained his MD and PhD degrees at the University of California, San Diego, and did his Pediatrics and Neurology/Pediatric Neurology training at the University of Utah and Boston Children’s Hospital.
Dr. Bonkowsky is engaged in both clinical and basic science studies. His clinical studies are focused on understanding the clinical features of leukodystrophies, and on the genetics of complex human neurobehavioral traits, especially language impairments. Dr. Bonkowsky’s clinical research group is investigating the genetics of leukodystrophies, using both local (Utah Population Database) and national databases, to understand the genetic and medical impacts of these disorders.
Research in the Bonkowsky laboratory investigates human neurogenetic diseases, specifically diseases of basal ganglia function and white matter diseases. His group has developed zebrafish models of human language disorders (the FOXP2 gene); transgenic lines to study basal ganglia development connectivity; and a zebrafish Parkinson’s disease model. Besides the basic neurodevelopmental research, his lab is generating disease models for high-throughput drug discovery.
Jeffrey R. Botkin, MD, MPH, is a Professor of Pediatrics at the University of Utah and an Adjunct Professor of Human Genetics. He is Chief of the Division of Medical Ethics and Humanities in the Department of Internal Medicine. He obtained his BA from Princeton University, MD from the University of Pittsburgh, and MPH from Johns Hopkins. Dr. Botkin is the Associate Vice President for Research Integrity at the University of Utah with oversight responsibilities for the IRB, conflict of interest, responsible conduct of research, biosafety, and research ethics education. His research and publications are focused on the ethical, legal, and social implications of genetic technology with a particular emphasis on research ethics, genetic testing for cancer susceptibility, newborn screening, and prenatal diagnosis. Dr. Botkin formerly was Chair of the Committee on Bioethics for the American Academy of Pediatrics and a former member of the Secretary’s Advisory Committee on Human Research Protections at DHHS. Dr. Botkin is currently a member of the Secretary’s Advisory Committee on Heritable Diseases in Newborns and Children. He Chairs the NIH’s Embryonic Stem Cell Working Group and is a member of the FDA’s Pediatric Ethics Advisory Committee. Dr. Botkin is an elected fellow of the Hastings Center.
Diana Brixner, RPh, PhD, FAMCP, serves as Professor and Chair of the Department of the Pharmacotherapy and as Executive Director of the Pharmacotherapy Outcomes Research Center (PORC) in the College of Pharmacy at the University of Utah. More specifically, through her additional appointment as the Director of Outcomes for the University of Utah Program in Personalized Health Care, she is applying these skills towards evaluation of personalized, or targeted, technologies in oncology. Her research interests are focused in general on demonstrating the value to providers, patients, payers and to society of new technologies in the delivery of health care. Her sabbatical at UMIT University of Health Sciences, Medical Informatics and Technology and the Oncotyrol Center for Personalized Cancer Medicine (www.umit.at; http://www.oncotyrol.at) in Austria has expanded her scope of expertise in applying decision analytical modeling to assist in these evaluations with international collaborators. Dr. Brixner’s most recent research interests have focused on the application of personalized medicine in oncology for women with breast cancer. Her efforts are particularly timely as expensive medications have come to the market to this disease in targeted populations and patients need to weigh the side effects of these drugs against their own preferences for treatment pathways. Patients need more information on the benefit and potential harm of thee new technologies in making more informed decisions on targeted treatment pathway options.
Bradley R. Cairns, PhD, received his B.S. (Honors) in Chemistry from Lewis and Clark College in Portland, Oregon in 1987. He conducted his graduate work at Stanford with Nobel Laureate Roger Kornberg PhD on both signal transduction and chromatin remodeling. He received his PhD in Cell Biology from Stanford in 1996, and also conducted an early phase of postdoctoral training (funding from the American Cancer Society). Dr. Cairns received formal postdoctoral training with Fred Winston PhD in the Department of Genetics at Harvard Medical School (funding from the Leukemia Society of America), where he continued to study chromatin remodeling complexes. In 1998, he joined the faculty of the Department of Oncological Sciences and the Huntsman Cancer Institute. In 2000, he was appointed as an Investigator with the Howard Hughes Medical Institute. He is currently Professor and Chair of the Department of Oncological Sciences, and is the Jon and Karen Huntsman Presidential Professor of Cancer Research and Senior Director of Basic Science at the Huntsman Cancer Institute – both within the University of Utah, School of Medicine. He is Co-Leader of the Nuclear Control of Cell Growth and Differentiation Program. He was elected to the American Academy of Arts and Sciences in 2017.
Nicola J. Camp, PhD, joined the University of Utah in 1998. She is a Mathematician-Statistician trained in genetic epidemiology and statistical genetics in the United Kingdom. She is a Professor in the Division of Hematology and Hematological Malignancies, Department of Medicine, University of Utah School of Medicine and a cancer investigator at Huntsman Cancer Institute in the Cancer Control and Population Sciences research program. She also leads HCI’s Womens’ Disease Oriented Team with David Gaffney, MD. Her research focuses on the identification of inherited genetic mutations that increase risk to cancers, specifically breast cancer and hematological malignancies. She often uses the rich genealogy in the Utah Population Database (UPDB) together with cancer diagnoses from the Utah Cancer Registry to study large cancer families. Using her mathematical background, Nicola also develops new statistical methods for genetic studies. Nicola has authored more than 140 publications and mentored over 40 students from the molecular biology, biomedical informatics, and MSTAT programs.
Lisa Cannon-Albright, PhD, is Professor and Division Chief of the Division of Genetic Epidemiology in the Department of Medicine at the University of Utah School of Medicine. She is a Huntsman Cancer Institute investigator and a member of the Cancer Control and Population Sciences program. As a Genetic Epidemiologist her research interests include computerized genealogy data, high risk pedigree studies, and predisposition gene identification.Dr. Albright has over 3 decades of experience in designing and directing studies of high-risk pedigrees to identify genes predisposing to cancer and other diseases. Genes identified in Utah high risk pedigree studies include NF (Barker et al.); Alport Syndrome (Atkins et al): BRCA1 (Miki et al, 1994); BRCA2 (Tavtigian et al, 1996); p16 (Kamb et al, 1994; Cannon-Albright et al., 1994); and ELAC2/PRCA2 (Tavtigian et al., 2001).
Dr. Albright’s research goals are to identify and understand predisposition genes for common traits. Her research group accomplishes this primarily through analysis of genealogy data and the study of extended Utah high-risk pedigrees. She currently directs and is involved in cancer studies of prostate cancer, pancreas cancer, Ewings sarcoma, melanoma, pelvic floor disorders, colorectal cancer, and the exploration of new population-based resources. Her work is sponsored by the National Institutes of Health, the University of Utah, AACR, Alex’s Lemonade Stand, the Huntsman Cancer Institute, and the George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, Utah.Dr. Albright has over 3 decades of experience analyzing a unique computerized genealogy of Utah, linked to medical data, to describe the heritable contribution to various health-related phenotypes including cancer, influenza mortality, asthma mortality, aneurysm, heart disease, diabetes, and rotator disease (Cannon et al., 1982, Cannon-Albright et al., 1994; 2003; 2005, Horne et al., 2005, 2006; Teerlink et al., 2007; Albright et al., 2008; Weires et al., 2005; Tashjian et al., 2009), among others. Dr. Albright continues to explore many different phenotypes using the UPDB.
She is currently collaborating on the following phenotypes: head and neck cancers, lung cancer, ataxias, Alzheimers, spinal disorders, neurofibromatosis, celiac disease, influenza, asthma, thinness, tendonopathies, benign pituitary tumors, stroke, auto-immune disease, gallstone disease, sepsis, stroke, skeletal injury, and osteoarthritis. Dr. Albright has recently built the genealogy of Utah and Massachusetts and record linked this genealogy to VA patients served in these states. This is part of a long-term plan to build the US genealogy and link to all 24 million VA patients nationwide. Dr. Albright is interested in exploring new approaches and has directed a collaboration to develop analyses using high density SNP data to identify regions identical by descent within and between individuals in search of predisposition genes (Thomas et al., 2008). She has developed an innovative approach of mining existing tissue resources to obtain germline DNA for affected members of high-risk pedigrees to enable genetic studies for diseases that are quickly lethal.
John C. Carey, MD, MPH, is Professor and Vice Chair of Academic Affairs, Department of Pediatrics, at the University of Utah. Throughout his career, Dr. Carey has been interested in birth defect syndromes and the care of children with these conditions. Dr. Carey graduated from Villanova University in 1968 with an A.B. and obtained his M.D. from Georgetown University School of Medicine in 1972. He trained in pediatrics, genetics and dysmorphology as a resident and fellow at the University of California San Francisco, 1972-1979. Dr. Carey obtained an M.P.H. from the University of California at Berkeley in 1976 in between his residency and fellowship years. Dr. Carey joined the faculty at University of Utah Health Sciences Center in 1979. He became Chief of the Division of Medical Genetics in 1985 and remained in that leadership position until 1999 when he stepped down to assume the role as Editor-in-Chief of the American Journal of Medical Genetics. He has held that editorial position since 2001. Dr. Carey established the Medical Genetics Fellowship Program at the University of Utah and continues as Program Director.
Dr. Carey’s research focus has been in congenital malformations, neurofibromatosis and syndrome delineation. He has authored or co-authored over 280 papers, chapters, invited articles and editorials for scientific journals. He also co-authored the textbook, “Medical Genetics,” by Jorde, Carey, & Bamshad, now in its 4th edition. The book is a widely used text in schools of medicine throughout North America and Europe.
Dr. Carey has served as medical adviser and “founding professional” for the Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) since 1980. The medical and ethical aspects of care of infants and children with these conditions are currently some of his major academic interests.
Clement Y. Chow, PhD, received his BA from Cornell University in 2003. He completed his Ph.D. in 2008 in the Department of Human Genetics at the University of Michigan, where he worked with Miriam Meisler. Clement completed his postdoctoral training as a co-mentored postdoc with Andy Clark and Mariana Wolfner at Cornell University. While not in the lab, he is wrangling two unruly children.
Hilary Coon, PhD, received her PhD in Behavioral Genetics/Psychology from University of Colorado, Boulder. Dr. Coon’s primary research interests within the Department of Psychiatry include finding genes that lead to susceptibility to autism and, genetic risk factors for suicide, and the genetics of nicotine and alcohol addiction.
Work to achieve these goals is accomplished through collaborations with national, and international collaborators, and locally through analyses of extended families ascertained through the Utah Population Data Base (UPDB). Gene findings may lead to better understanding of underlying mechanisms. Intermediate traits and co-morbid conditions associated with disease have also been a focus of Dr. Coon’s research. Traits that are correlated with disease are often observed at increased rates also in clinically unaffected family members. These traits may indicate the presence of relatively common gene changes that, together with other genetic and environmental factors, contribute to increased risk of carrying a diagnosis. In addition, appearance of particular traits or co-morbid conditions in affected pedigree members and their clinically unaffected relatives may indicate particular genetic subtypes of disease present in the family. The study of these phenotypes within families may reveal susceptibility mutations that would otherwise not be detected. Pedigrees also offer a chance to study protective mechanisms in unaffected relatives, and environmental exposures that may be particularly important for genetically susceptible individuals.
Interests outside the Psychiatry Department include the development and application of statistical methods to genetic and phenotypic data, cardiovascular genetics, genetics of obesity, and genetics of lung disorders. Dr. Coon is also interested in research ethics, and is a long time member of the University of Utah Institutional Review Board.
Karen Eilbeck, MSc, PhD, earned both her MSc degree in Bioinformatics and her PhD in Biochemistry at the University of Manchester in England. She did postdoctoral training in the Department of Computer Science also at the University of Manchester. She is currently a Professor in the University of Utah’s Biomedical Informatics Department.
Her expertise is in understanding and accessing biological data in order to understand diseases better. Her research involves the annotation of biological sequence, in particular genome sequence. Genomic annotation is the process of adding further knowledge to the raw sequence data, such as the location of genes, the functions of the gene products, and the positions of known mutations. Dr. Eilbeck also maintains the Sequence Ontology, an open-source project for organizing and naming the parts of genomic sequence and the relationships between these parts. This project has unified the vocabulary used to annotate genomes, enabling computational exploration of data from many sources. It forms the terminology used by many genome software programs and model organism communities.
Recently she has helped coordinate an effort to standardize the terminology and metadata needed to describe sequence variants with regards to a reference genome, and has provided a dataset of 10 standardized whole genomes for analysis and benchmarking. This work is relevant to areas of medicine such as genetic testing and whole genome analysis.
Dr. Eilbeck joined the department in 2010 as an Assistant Professor and is also an Adjunct Assistant Professor in the University’s Department of Human Genetics. Prior to moving to Utah, she was a scientist at Celera Genomics, and the Berkeley Drosophila Genome Project at UC Berkeley. She has also been a member of the Gene Ontology Consortium for several years.
Jason Gertz, PhD, is an investigator at Huntsman Cancer Institute (HCI) and an Assistant Professor in the Department of Oncological Sciences at the University of Utah. He is also a member of the Nuclear Control of Cell Growth and Differentiation Program. Dr. Gertz studies the role of transcription factors in cancer.The inappropriate expression of genes is a common defect across different types of cancer. Transcription factors, which orchestrate gene expression patterns by interacting with specific loci throughout the genome, play a key role in the growth and development of tumors. Dr. Gertz’s research goal is to understand how transcription factors choose their genomic binding sites, how binding events lead to gene expression changes, and how the actions of transcription factors are altered in cancer. To determine the roles that transcription factors play in gene regulation, his lab uses and develops experimental methods that take advantage of next-generation sequencing to create high-resolution maps of gene regulatory networks. The Gertz lab also utilizes cutting edge computational approaches to take full advantage of these rich genomic datasets. The study of transcription factors in cancer promises to lead to new therapeutic targets and an understanding of key events that occur during tumorigenesis.Dr. Gertz received a BA in Mathematics with concentrations in Computer Science and Economics from Cornell University in 2003. In 2008, he received a PhD in Computational Biology from Washington University School of Medicine. He was a postdoctoral fellow in Richard M. Myers’ laboratory at the HudsonAlpha Institute for Biotechnology, where he was funded in part by the American Cancer Society.
Stephen L. Guthery, MD, MS, is the Chief of the Division of Pediatric Gastroenterology, Hepatology, Nutrition. His interests include the care of infants, children and adolescents with Crohn’s disease, ulcerative colitis and liver disease. His research involves understanding the genetic basis of and improving treatments for these conditions.
Dr. Guthery is board certified in General Pediatrics, Pediatric Gastroenterology, and Pediatric Transplant Hepatology. Dr. Guthery has served as an expert clinical/scientific consultant for several non-profit agencies and the National Institutes of Health. He is listed among the Best Doctors in America. Dr. Guthery is a native of the Mountain West and has been at the University of Utah and Primary Children’s Hospital for close to 15 years.
Kimberly Kaphingst, PHS, is a health communication researcher. Her research interests are in health literacy, cancer communication, family history, and the communication of genetic and genomic information. She led a series of intramural studies at the National Human Genome Research Institute (NHGRI) that examined predictors of individuals’ understanding of and responses to genetic information across various disease outcomes. She was a Co-Investigator on the study team for the intramural Multiplex Initiative at NHGRI, a study designed to examine uptake of multiplex genetic susceptibility testing among a population-based sample of healthy adults ages 25-40. Dr. Kaphingst led the working group that developed the Multiplex genetic susceptibility test results feedback strategy and examined participants’ use of the study website and how this affected their decision making for uptake of the Multiplex test. She also led an analysis of participants’ recall and comprehension, affective responses, and information seeking and health behaviors following receipt of the test results feedback. Dr. Kaphingst was the Principal Investigator on a recently completed study (R01 CA168608) to examine preferences for return of genome sequencing results among young breast cancer patients. She also co-led a supplemental project to the Program for the Elimination of Cancer Disparities grant (3U54CA153460) at Washington University, which examined preferences for models of consent for secondary research uses of biospecimens among a diverse sample of women. She previously led a qualitative investigation of African American women’s reactions to and use of two family history tools. In her current work, Dr. Kaphingst is investigating understanding of shared familial risk and family communication among Caucasian, Latino, and Pacific Islander families.
Todd Kelley, MD, is an Associate Professor in the Department of Pathology at the University of Utah. He received his MS in immunology and microbiology and his MD from Ohio State University, and completed his residency in anatomic and clinical pathology and fellowship training in hematopathology at the Cleveland Clinic. He is board certified in anatomic and clinical pathology by the American Board of Pathology, with subspecialty certification in hematology. His research interests include the identification of novel diagnostic and prognostic biomarkers in leukemia and lymphoma.
Attila Kumanovics, MD, is an Assistant Medical Director of the Immunology Laboratory and co-director of the Immunogenetics Laboratory at ARUP Laboratories. Dr. Kumanovics is board certified in clinical pathology by the American Board of Pathology and molecular genetic pathology by the American Board of Medical Genetics and American Board of Pathology.
Nicola Longo, MD, PhD, is a Professor of Pediatrics and Adjunct Professor of Pathology at the University of Utah School of Medicine. Born and educated in Italy, Dr. Longo earned his M.D. and Ph.D. in Molecular Biology at the University of Parma School of Medicine. He received residency and fellowship training in pediatrics, medical genetics, and clinical biochemical genetics at Emory University in Atlanta, Georgia. He joined the University of Utah in 2001 and is now the Director of the Metabolic Service, Co-Director of the biochemical Genetics laboratory at ARUP, Director of the Fellowship Training Program in Biochemical Genetics, and chief of the Division of Medical Genetics. He is an expert in inherited metabolic diseases and is intimately involved in the treatment of patients with these diseases at Primary Children’s Medical Center. His basic and clinic research covers disorders of fatty acid oxidation and carnitine metabolism and the development of novel treatments for metabolic disorders including phenylketonuria, organic acidemias, and lysosomal storage disorders.
Elaine Lyon, PhD, is a Medical Director of the Molecular Genetics and Genomics Department at ARUP and a Professor of Clinical Pathology at the University of Utah’s School of Medicine. Dr. Lyon received her PhD in medical genetics at the University of Alabama at Birmingham and completed fellowships in clinical molecular genetics and molecular pathology at the University of Utah. She is certified with the American Board of Medical Genetics; and a member of the Association for Molecular Pathology, American Society of Human Genetics, American College of Medical Genetics, and the American Association for Clinical Chemistry.
Gabor T. Marth, DSc, has focused his research on development of DNA sequence analysis software. Over the past 15 years, his group has developed software to aid genome sequence completion (finishing), for single-nucleotide polymorphism discovery, for population genetic analysis of genomic variation data. They have developed software packages for base calling, read mapping, variant discovery, and data visualization in high-throughput, next-generation sequencing data. Dr. Marth’s current research is aimed at developing complete, automated pipelines for sequence processing, variant detection, and variant interpretation; adapt and extend our tools for cancer sequence analysis, and at developing informatics technologies to support population, medical, and personal genome sequencing of very large numbers of samples
Gwen McMillin, PhD, is a Professor of Pathology at the University of Utah School of Medicine. She received her PhD in pharmacology and toxicology from the University of Utah and is certified by the American Board of Clinical Chemistry in clinical chemistry and toxicological chemistry. She is a member of ARUP’s R&D Executive Committee, and is actively involved in professional associations such as the International Association of Therapeutic Drug Monitoring and Clinical Chemistry (IATDMCT), the American Association for Clinical Chemistry (AACC), and the College of American Pathologists (CAP). Her primary interests include detection of neonatal drug exposures, pain management, and clinical applications and implementation of pharmacogenomics.
L. Charles Mutraugh, PhD, is an Associate Professor in the Department of Human Genetics at the University of Utah. He is a member of the pancreas cancer research group, an investigator of the Huntsman Cancer Institute, and a member of the Experimental Therapeutics Program. Although the pancreas is a relatively small organ, its diseases, including type 1 diabetes and pancreatic cancer, have a big impact on humanity. Type 1 diabetes affects approximately one million Americans, and about 30,000 are diagnosed with pancreatic cancer each year. These diseases affect two distinct compartments of the pancreas: insulin-secreting endocrine cells are destroyed in type 1 diabetes and pancreatic cancer is thought to arise from cells of the exocrine compartment. Early in development, however, both of these compartments arise from a common set of progenitors.
In his research, Murtaugh aims to understand how progenitors are converted into mature endocrine and exocrine cells, which will lead to better treatment and prevention of these diseases. Murtaugh received his PhD from Harvard Medical School and completed a postdoctoral fellowship at Harvard University. He has received several grants for his research on pancreas development and disease. Among these is a 2006 award from Huntsman Cancer Institute’s Director’s Translational Research Initiative, for which he was one of the first investigators selected.
Deborah Neklason, PhD, is a member of Huntsman Cancer Institute’s colon cancer research team and Research Associate Professor in the Department of Oncological Sciences at the University of Utah School of Medicine. She is also a member of the Cancer Control and Population Sciences Program.Neklason’s works focuses on the genetic basis of inherited forms of colon cancer. Scientists have identified the genes that account for about five percent of inherited cancer cases. The goal of Huntsman Cancer Institute’s colon cancer research is to find the genes that lead to the rest of the cases and to identify targets for chemoprevention.Neklason coordinates clinical and basic research projects originating from the Familial Colon Cancer Clinic. This clinic is for patients and family members who are at risk for inherited colon cancers. She is working to identify genes responsible for cancer in these families and to characterize the molecular consequences of the genetic mutations. She is also involved in the “Sibling Pair Project,” which is the largest search ever launched for brothers and/or sisters with a common colon cancer gene. In this study, Huntsman Cancer Institute collaborates with 20 other major cancer centers in the United States to identify multiple genes that cause a predisposition to cancer.Prior to joining Huntsman Cancer Institute, Neklason was manager for biochemical assay products at Echelon Biosciences in Salt Lake City. She received her PhD in human genetics from the University of Utah in 1999.
Aaron Quinlan, PhD, is an Associate Professor of Human Genetics and Biomedical Informatics at the University of Utah. Broadly speaking, Dr. Quinlan’s group’s research marries genetics and genomics techniques with computer science, machine learning, and engineering to develop new ways of gaining insight into genome biology and the genetic basis of traits. They try to tackle challenging problems with practical importance to understanding genome variation in the context of human disease.
Joshua D. Schiffman, MD, received his medical degree from Brown University School of Medicine, completed his Pediatric Residency, Pediatric Chief Residency, and Pediatric Hematology/Oncology Fellowship at Stanford University. He has been an investigator at the Huntsman Cancer Institute since 2008, and a faculty member at the University of Utah since 2009. Dr. Schiffman is board-certified in Pediatrics and Pediatric Hematology-Oncology.
He is currently a Professor of Pediatrics at the University of Utah, an Adjunct Professor in the Department of Oncological Sciences, and is in the Division of Hematology/Oncology at Primary Children´s Medical Center. He serves as the Medical Director of the High Risk Pediatric Cancer Clinic at Huntsman Cancer Institute where he cares for children and families with inherited risk for cancer. His specific clinical interests are cancer susceptibility in families, with a focus on the genomic changes necessary for cancer development.
Dr. Schiffman’s work in the High Risk Pediatric Cancer Clinic contributed to a landmark study in the field of clinical cancer genetics demonstrating that early cancer surveillance in families with Li-Fraumeni Syndrome significantly improves overall survival. He continues to work with children and families at high risk for cancer development to discover genes that may be targeted for both prevention and treatment of childhood cancer. Dr. Schiffman is also the Education Director for the Program in Personalized Health Care at the University of Utah, where he oversees the teaching of personalized medicine to physicians and their patients.
Ken R. Smith, PhD, is an investigator at Huntsman Cancer Institute (HCI), a Professor in the Department of Family and Consumer Studies at the University of Utah, and a member of the Cancer Control and Population Sciences Program. As a family demographer and medical sociologist, Smith’s research has focused on suspected psychosocial consequences of genetic testing, including psychological distress, sibling and spouse relationships, reproductive decision making, cancer screening behaviors, cancer risk communications, and life insurance purchasing behavior. This information could help genetic counselors provide more information about genetic testing to at-risk persons who are considering testing. Dr. Smith uses the Utah Population Database (UPDB) to examine the relationship between family structure, mortality, and cancer risk over the past century. In collaboration with Geraldine Mineau, PhD, a principal investigator at HCI, and Lee Bean, PhD, emeritus professor in the University of Utah’s sociology department, Smith is attempting to learn more about how the number, structure, and access to kin affect cancer incidence and mortality as well as overall longevity. In collaboration with Richard Cawthon, MD, PhD, in the University of Utah’s Department of Human Genetics, and Richard Kerber, PhD, an HCI investigator, Smith is using the UPDB to identify and study families that exhibit exceptional longevity and that may also be aging so slowly that age-related diseases such as breast and prostate cancer are postponed to late ages. By studying exceptionally long-lived and normal-longevity control families in the UPDB, researchers may be able to provide information that could identify individuals at risk for premature death and early incidence of certain cancers so that they may have a better chance for early detection and curative treatment.
Sean Tavtigian, PhD, is a Professor in the Department of Oncological Sciences at the University of Utah and a Huntsman Cancer Institute investigator. He is a co-leader of the Cancer Control and Population Sciences Program. Research in Tavtigian’s lab concentrates on two areas of genetic susceptibility to cancer. The first is identification and characterization of intermediate-risk and high-risk cancer susceptibility genes. The second is analysis of unclassified variants that are observed during the clinical testing of established high-risk cancer susceptibility genes.
Martin Tristani-Firouzi, MD, is a clinician-scientist at The University of Utah School of Medicine and attends on the inpatient and outpatient services at Primary Children´s Hospital and McKay-Dee Hospital. As a general cardiologist, he sees children with all forms of cardiac disease. Having a special interest in Long QT, an inherited heart rhythm syndrome, he has been awarded a number of research grants. He has a special interest in attending to the needs of Spanish-speaking population in Utah.
Katherine (K-T) Varley, PhD, is an investigator at Huntsman Cancer Institute and an Assistant Professor in the Department of Oncological Sciences at the University of Utah. She is a member of the Nuclear Control of Cell Growth and Differentiation Program and her laboratory studies epigenetic gene regulation in breast cancer.Genomic technology has revolutionized the ability to detect the molecular defects that occur in cancer. Dr. Varley’s research focuses on using next-generation sequencing assays and computational analysis to study the gene expression, transcription factor binding and DNA methylation patterns in breast cancer. Her goals are to answer fundamental questions about how epigenetic gene regulation is disrupted in cancer cells as well as to discover drug targets and biomarkers that may have a more immediate impact on breast cancer treatment. Research in her lab involves the development of new molecular methods and bioinformatics approaches to explore the cancer genome and to translate discoveries into clinical tools that improve patient care. Dr. Varley received her BS in Biology with a concentration in Computational Biology from Cornell University in 2003. She received her PhD in Computational Biology in 2009 from Washington University School of Medicine where Dr. Robi Mitra was her thesis advisor. Her postdoctoral studies were conducted in Dr. Richard M. Myers’ laboratory at the HudsonAlpha Institute for Biotechnology and included collaborative studies with the ENCODE Project Consortium and researchers at the University of Alabama at Birmingham Comprehensive Cancer Center.
Michael Varner, MD, joined the University of Utah’s Department of Obstetrics & Gynecology in 1987 and currently serves as the HA and Edna Benning Endowed Presidential Professor and Vice-Chair for Research. His major interests lie in clinical trials and research administration. He developed and directs the Obstetrics and Gynecology Research Network, a consortium of over 50 research personnel who conduct and administer the many clinical trial networks – both obstetric and gynecologic – in which the Department participates. This Network currently conducts NIH-funded clinical trials in hospitals and offices of women’s health providers along the northern Utah urban corridor. Dr. Varner currently serves as the Principal Investigator for the Utah Maternal-Fetal Medicine Units Network site, is a co-investigator on three others and is a mentor/collaborator on a number of individual and institutional training grants, including the Department’s BIRCWH and WRHR K12 awards. In addition to his Departmental obligations he is the Associate Director of the University’s Center for Clinical and Translational Sciences (CTSA award) and the Co-Director of the University’s Institute for Women’s and Children’s Health Research. Along with his wife (Kathleen Digre MD), he is the co-recipient of the 2012 University of Utah Rosenblatt Prize, the University’s highest faculty honor in recognition of career excellence in teaching, research and administration
David Viskochil, MD, PhD, is Professor of Pediatrics and one of the clinical geneticists in the Division of Medical Genetics. He received his bachelor’s degree in biology from the University of Arizona, and his doctorate in biochemistry and medical degree from the University of North Carolina 1985. He completed his pediatric residency and clinical genetics fellowship at the University of Utah Affiliated Hospitals.
His research has focused on the molecular genetics of the neurofibromatosis type 1 (NF1) gene, and bone health and cancer malignancy in patients with NF1. He performs translational research in NF1-related manifestations, and is the local principal investigator for the NF Clinical Trials Consortium. He is involved in clinical trials for NF1 and lysosomal storage disorders. He was the recipient of a Young Investigator Award from the National Neurofibromatosis Foundation (NNFF) and a K-08 award for NF1-related research. Ongoing funding has come from the Department of Defense NF Research Program, NINDS of the NIH, and the Shriners Research Foundation. He has published over 50 research and clinical reports and serves on study sections for the Department of Defense and NIH.
Karl Voelkerding, MD, is a Professor of Pathology at the University of Utah School of Medicine and past president of the Association for Molecular Pathology. He is the former chair of the College of American Pathologists’ Next-Generation Sequencing Project Team, which has developed laboratory accreditation requirements and proficiency testing programs for clinical next-generation sequencing. Dr. Voelkerding is currently chair of the newly formed College of American Pathologists’ Genomic Medicine Resource Committee. Dr. Voelkerding received his MD from the University of Cincinnati College of Medicine and is board certified in clinical pathology and molecular genetic pathology. His applied research focuses on the translation of genomics technologies into clinical diagnostics. During the past few years, his basic research has centered on the utilization of genomic approaches to elucidate the genetic basis of primary immune deficiencies, which has resulted in the discovery of two new genes being associated with common variable immunodeficiency.
Robert B. Weiss, PhD, is a Professor of Human Genetics at the University of Utah. He has significant experience in the molecular genetics and genomics of various human disorders. Through collaborative efforts, his laboratory developed and offers DNA diagnostics to a large segment of the Duchenne muscular dystrophy community. This effort also gathers natural histories of disease progression in anticipation of mutation-specific clinical trials and patient-specific therapeutics.
As director of an academic laboratory for molecular genetic diagnostics since 2003, Dr. Weiss has returned >4,000 genetic test results to physicians and their patients with clinical diagnoses related to muscular dystrophy and eye diseases. Genetic association studies with human behavioral and addiction phenotypes also encompass a major research interest. He has published several studies describing the association of nicotinic acetylcholine receptor gene variants with smoking behaviors in adult and adolescent cohorts, including large meta-analyses involving >50,000 subjects.
Corinne Welt, MD, has served as Professor of Medicine, in the University of Utah’s Division of Endocrinology, Metabolism and Diabetes since September 2014. Her laboratory is focused on the genetics of female reproductive disorders with a goal to understand the etiology, discover genetic markers for early identification and intervention and identify new treatment targets for infertility. They have assembled an extensive database of genetic and phenotype data in women with polycystic ovary syndrome (PCOS) and primary ovarian insufficiency (POI or premature ovarian failure) and their family members. These cohorts have been critical for the identification and replication of several variants associated with PCOS, both in European and Han Chinese ethnic groups, and the identification of gene mutations in familial POI.
Andrew S. Weyrich, PhD, serves as Vice President of Research and Professor of Internal Medicine at the University of Utah. His lab focuses on identifying and characterizing novel functions of megakaryocytes and platelets in human disease, which include reprogramming of mRNA and protein signatures, mRNA translation, and pre-mRNA splicing. Dr. Weyrich’s program has been continuously supported by the NIH for over 20 years, has published over 120 peer-reviewed manuscripts and reviews, and is a recognized leader in the thrombosis and hemostasis research community, especially in relationship to how genetic disorders regulate the function of platelets. As part of the program, they study responses of megakaryocytes and platelets in humans with underlying genetic mutations (i.e., NBEAL2, ETV6, etc.).
Mark Yandell, PhD, serves as the Associate Director and Chief Data Strategist of the Program in Personalized Health. He is a Professor for the Department of Human Genetics and an Adjunct Associate Professor for the Department of Biomedical Informatics. His research interests include: Comparative Genomics, Computational Biology, Human Population Genetics and Image Processing Computer-Assisted bioinformatics.
Joseph Yost, PhD, is a Professor of Neurobiology and Anatomy, an Adjunct Professor of Pediatrics at the University of Utah, and a member of the Cell Response and Regulation group. He studies genetics, particularly the difference between genes that develop normally and genes that can lead to cancer. Yost researches an important cellular process in which small molecules (proteoglycans) are added to proteins and allow for these proteins to be in the right place to transmit their signals. These signals are important when cells communicate with each other and are often not working correctly during cancer metastasis (when cancer spreads to other parts of the body).Yost received his undergraduate degree from Creighton University, Omaha, and a PhD from the University of Chicago.