FACULTY

We focus on the genetic regulation of bone mass and the genetic causes of bone disease from the point of view of bone formation and strength. We use both forward and reverse genetics studies to interrogate the genetic causes of phenotypes critical to understanding bone quality that cannot be readily studied in human populations. These phenotypes of interest include bone composition, bone formation and mineralization by the osteoblast. In addition, we participate in many human cohort studies aimed at understanding the etiology of musculoskeletal disease wherein we determine the biological function of genes found to be associated with musculoskeletal traits. Lastly, we study the diagnosis of and the consequences of postoperative infection, with an emphasis on an infection associated with spinal instrumentation.

Understanding how ion channels contribute to morphological development and microtubules are regulated for brain development.

My laboratory has a long-standing interest in induced pluripotent stem cells (iPSCs) and their differentiation capacity into a variety of cell types. I am particularly interested in developing experimental stem cell-based therapies for skin blistering diseases, such as Epidermolysis Bullosa, and connective tissue diseases, such as Ehlers-Danlos Syndrome. My group also studies mechanisms of aging and the pathways that trigger rejuvenation during reprogramming into iPSCs.

The Breuss laboratory is interested in genomic and cellular mosaicism. We assess its impact on human disease and utilize it as a tool to unravel brain and germline development.

My research focuses broadly on personalizing medicine, using genetic information and biomarkers for tailored treatment, in relation to pharmacogenomics as well as understanding the ethical, cultural, and social implications of genomic research with populations historically underrepresented in health research. My current research includes studying cytochrome P450 genetic variation in Indigenous communities (e.g., American Indian and Alaska Native peoples), with a focus on CYP2A6 variation in relation to nicotine metabolism and smoking cessation, as well as understanding the ways in which adaptations to diverse local environments may have impacted modern pharmacogenomic variation and evolutionary medicine. My other projects include exploring the perspectives of tribal members on genetic research with tribes and developing guidelines and policies in partnership with tribes. All of my projects strive to use community based participatory research approach and include cultural and Indigenous knowledge.

Neural crest cells (NCCs) arise at the junction between the neural and non-neural ectoderm before moving ventrally around the embryo along the entire rostro-caudal axis. Cranial NCCs form most of the bone and cartilage in the face, explaining why defects in early NCC patterning are so devastating to human facial development. Our lab uses a number of cutting edge molecular and cellular techniques and approaches in both mouse and zebrafish models to dissect signaling networks that decide the fate of NCCs. We then use this information to better understand the basis for human birth defect syndromes affecting the face for which a genetic basis has not been established.

We are a computational group using large-scale human genomics as a tool to learn more about diet’s role in the body and in human health, with a focus on cardiometabolic disease.

We are a translational research lab focusing on inborn errors of metabolism such as pyridoxine-dependent epilepsy (PDE), glutaric aciduria type I (GA I), and vitamin B6 metabolism. We are committed to scientist - advocate collaborations with the goal to ensure scientific advances are relevant and patient-centered. We partner with families, clinicians, and scientists to study the natural history of these neurologic disorders and the impact of therapies on clinical outcomes.

The Dias Lab is broadly interested in the genetics of neurodevelopment. We are interested in better understanding the molecular mechanisms of neurodevelopmental disorders, including autism and intellectual disability. In order to do this, we are tackling two major challenges in the field- cellular and clinical heterogeneity.

Our main research goal is to understand how gene networks control cell behavior in homeostasis and human disease. Our two main focus areas are cancer biology and Down syndrome.

Research interests include: Chronic Beryllium Disease Diabetes, Type-1 Diabetes, Type-2 Genetic Epidemiology Interstitial Lung Disease (ILD) Schizophrenia Statistical Methods

We leverage human genetic diversity to gain a better understanding of the architecture of complex traits, using a mixture of epidemiological and population genetic methods. We have worked extensively on questions regarding human population structure, admixture, and other components of ancestry critical to modern human genetic research, as well as examined their impact on quantitative traits and disease.

We focus on bringing together publicly available big data, developing new computational methods to analyze that data, and creating tools to put those resources into the hands of every biologist.

TISLab is unique in that it focuses on unifying data across sources, disciplines and forms to make them informative for new kinds of translational questions. It brings together people and their data across extremely diverse disciplinary divides, leading advances in science that aim to: (1) Cope with Climate Change; (2) Facilitate knowledge discovery for Covid-19; (3) Improve Rare Disease Diagnosis and Treatment; (4) Accelerate Cancer Research; and (5) Promote Healthy Lifestyles.

The Hendricks’s team mission is to be the lynch pin between biomedical research and statistical and machine learning method development. Sitting at the interface between the applied and the theoretical enables our team to develop and apply methods to improve the utility and equity of large, publicly available genetic data resources, identify the biological mechanisms of healthy diets, and elucidate the genomic underpinnings of conditions and traits.

My research interests involve the development and application of advanced computational techniques to biomedicine, particularly the application of machine learning and statistical inference techniques to high-throughput molecular assays. I am also interested in automated processing of biomedical texts, anatomically realistic models of neural computation, and neurobiologically and evolutionarily informed computational models of cognition.

Our lab studies how cells detect and degrade aberrant RNAs, and how dysregulation of this surveillance process contributes to human muscle development and disease.

Dr. Julian's research focuses primarily on the mechanisms underlying human adaptation to the chronic hypoxia of high altitude and, in particular, how these processes influence maternal vascular adaptation to pregnancy, pregnancy outcome and the long-term health of of affected offspring.

Our research focuses on the development and application of statistical and computational methods for analyzing omics data sets.

Our goal is to enable biomedical researches to effectively reuse massive collections of publicly-available data — e.g., omics, knowledgebases, unstructured text, genetic associations — to gain nuanced insights into the molecular mechanisms underlying heterogeneous traits and disease.

Dr. Lange is a statistical geneticist with expertise in the development and application of statistical methods to genetic data. During the past 25 years, he has actively participated in numerous collaborations studying a wide-range of human diseases across a wide-range of study designs, including linkage analysis, genome-wide association studies and next-generation sequencing studies. Dr. Lange’s methodological interests primarily focus on study design for gene-mapping studies, including the use of multistage study designs and use of public genetic resources to improve power for gene discovery.

Dr. Lange’s research focuses on research focuses on the genetic epidemiology of complex traits, primarily regarding cardiovascular disease, obesity, diabetes and pulmonary related phenotypes. Particular areas of focus include genetics studies in understudied minorities and facilitating large multi-study genetic collaborations.

My translational research program focuses on the developmental mechanisms underlying genetic and environmental risk for schizophrenia with the aim of identifying novel biological pathways for treatment development.

We are interested in the mechanisms that keep development on track, even when cells are faced with deleterious changes like genetic mutations.

The Norman lab researches immunogenetics, which is the study of polymorphic molecules that have critical roles during infection control, reproduction, cancer, and immune-mediated disease. We study the genetic and functional immune diversity of indigenous groups worldwide, including African hunter-gatherers, Australians and Pacific Islanders. We also study ancient humans, and perform comparative evolutionary analyses of multiple other species. The Lab focuses on the co-evolution of the HLA molecules that are expressed by healthy cells, and the KIR, which are Natural Killer (NK) cell receptors that interact with HLA to control immune cell activity.

Dr. Norris' research focuses on the influence of the environment in the development of autoimmune diseases, including type 1 diabetes (T1D), celiac disease, rheumatoid arthritis, lupus and multiple sclerosis in genetically susceptible individuals. Specifically, Dr. Norris examines the role of maternal, infant, childhood and adult dietary factors in the etiology of these autoimmune diseases, using dietary assessment, metabolomic and epigenomic approaches in large, at-risk populations.

Protein, RNA, and other functional molecules that exist in living organisms are the product of millions of years of evolution. The substitutions that have occurred over the years had to have been compatible with the constraints of structure and function, and thus the evolutionary record provides critical data for understanding macromolecular structure/function/sequence relationships. In our laboratory, we use the techniques of molecular evolution, computational biology, and evolutionary genomics to exploit this record to make inferences about past biological events and to make testable predictions about the effects of mutations.

Neurodegenerative diseases and Down Syndrome.

My research interests are focused broadly on precision medicine approaches for preventing and treating obesity, diabetes, and their complications, particularly cardiovascular disease. We use electronic health record data and genetic data as tools to understand the heterogeneity of the diabetes patient population and variability in response to interventions, to identify novel risk factors for cardiometabolic diseases, and to build risk models optimized to real-world patient populations in health systems. Our ultimate goal is to build evidence that guides individualized targeting of preventive and treatment interventions for obesity, diabetes, and diabetes complications.

Etiology, epidemiology and clinical outcomes of type 1 diabetes & cardiovascular complications of both type 1 and type 2 diabetes.

His current, primary research focuses on generating induced pluripotent stem (iPS) cells from patients with inherited skin diseases, genetically correcting these cells and differentiating them into a skin stem cell lineage, which can be returned to the same patient.

Dr. Santorico’s research, which has been funded through multiple NIH awards, is highly interdisciplinary, bridging the areas of statistics and genetics. This has included methods and techniques for detecting genetic variation that associates with human disease, and more recently, translational research working towards disease subtypes that could inform medical treatment. She is heavily involved in understanding the genetic factors that contribute to vitiligo, an autoimmune disease that causes progressive skin bleaching.

Our goal is to identify genetic and epidemiologic factors that influence risk for otolaryngologic diseases, such as otitis media, hearing loss, vestibular disorders and obstructive sleep apnea/sleep-disordered breathing. Our studies are made possible through close collaboration with scientists and clinicians on campus and in multiple institutions within the US and the Americas, Asia, and Europe.

My research focuses on genetics and genomics of pulmonary fibrosis, gene discovery in innate immunity and epigenetics of environmental lung disease.

The Seibold Lab is focused on identifying genetic determinants and biomarkers of complex lung diseases, including asthma and pulmonary fibrosis. Many of the genetic variants that influence development and severity of these lung diseases do so by altering molecular functions in specific lung cell types. His lab is focused on identifying dysregulated molecular functions in patient lung cells, by Nex-Generation sequencing technologies. Using patient cohorts the genetic determinants of these molecular changes are then mapped. The lab is also editing the genome of these lung cells to allow detailed mechanistic studies of disease variants and better understanding of how these genetic changes increase risk of disease development.

My research focuses on three major areas; i) Copy Number Variation in Human Disease, ii) Genome Instability and Mechanisms of Rearrangement and iii) Discovery and Functional Characterization of Candidate Disease Genes.

My research examines the role of the gut microbiome in obesity and cardiometabolic disease.

Deciphering the role of interferon signaling in Down syndrome using a combination of cell-based and in vivo models.

Genetics studies of inherited cardiomyopathies, polycystic kidney disease, intellectual disabilities, hereditary vascular diseases, Barth syndrome, Danon disease, and lysosomal storage diseases.

I am interested in neurometabolic diseases that causes seizures, in particular in non-ketotic hyperglycinemia. I study the genetic basis, the clinical spectrum, the prediction of outcome including the relation between genotype and phenotype, the pathogenesis in animal models and human patients and the development of new treatments for this condition. I am also interested in pyridoxine dependent epilepsy and related metabolic causes of seizures. I am interested in the development of appropriate clinical tests for mitochondrial energy disorders, in the identification and proof of new genetic causes as well as the development of new treatments. Disorders of lipoate metabolism are a particular focus.

We are specifically focused on the following research: (1) Reproducible software for processing high-dimensional microscopy readouts; (2) Microscopy representations of cell state; (3) Drug screening for pediatric diseases; and (4) New models of pediatric disease to aid drug screening.

The Wiley Lab develops methods for using electronic health record data for clinical evidence generation and biomedical research in support of precision medicine. Ongoing projects include building and mining a clinical data repository to inform clinical management of intracranial aneurysms, developing tools to support abstraction of medical charts, and supporting informatics and data science needs of other collaborative projects in genomics and precision medicine. The Lab also has a strong emphasis on education, developing content to train clinical data scientists and research informaticians.

Transcriptional regulation of mouse embryonic development.

My research program uses genetics, transcriptomics, epigenomics and animal/cell models of disease to enhance early detection, predict outcome, develop biomarkers, and design personalized therapeutic strategies in lung disease. Specific current disease areas of interest include asthma and allergy in underrepresented minority populations, pulmonary fibrosis, and sarcoidosis.

The primary goal of the Yeager Lab is to understand how the lung vasculature (blood and lymphatic) operates during episodes of acute and chronic inflammation. The Yeager Lab examines lung tissue and peripheral blood immune cells from patients with pulmonary hypertension, including persons with Down syndrome.

Building statistical tools to analyze associations between genetic data and phenotypic data. Discover/cultivate interests in electronic health record data, network analysis in the PheWAS setting, gene- variant-level testing of single or multiple traits.

Dr. Baker's research is focused on mitochondrial metabolism in relation to chronic disease. Through the Ludeman Family Center for Women's Health Research seed grant funding, he has been able to explore the effects of maternal obesity and gestational diabetes on fetal health. He is also partnering with colleagues in nephrology to characterize sex-specific effects of acute kidney injury on heart disease.

Dr. Gault collaborates with UC Denver neurosurgeons Aviva Abosch, MD PhD and Steven Ojemann, MD and neurophysiologist John Thompson, PhD in order to identify biomarkers of psychiatric disease.

We are currently using next-generation sequencing coupled to functional models (animal and cell culture) to discover new genetic variants important to the development of Idiopathic scoliosis (IS). We are also interested in whether tissues relevant to IS — for example, bone and cartilage— harbor transcriptional differences between IS and control individuals. In separate projects, our lab is currently analyzing the transcriptomes of different tissues from IS individuals via RNA sequencing. We believe that these projects will help to discover new genetic regions important to IS, shedding much needed light on the disease process, advancing diagnostics, and paving the way for novel therapies.

Pathophysiology and Treatment of Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

My research is dedicated to the study of genetics of heart muscle diseases, called cardiomyopathies. Through our researches on the molecular genetics of cardiomyopathies and analysis on genotype-phenotype correlations, several genes and pathways causing heart disease have been investigated in my laboratory, from cytoskeletal and sarcomeric genes, to ion channels. We are interested in the genes causing dilated cardiomyopathy, arrhythmogenic right ventricular dysplasia, left ventricular noncompaction and hypertrophic cardiomyopathy.

Mouse models of lung cancer risk; Use of genetically modified mice to assess potential lung cancer chemoprevention strategies.

Bioinformatics education.

Clinical genetics, biochemical genetics, and genetic counseling.