Scott Ballinger, Ph.D.

Dr. Ballinger is a Professor in the UAB Department of Pathology. His group hypothesizes that mitochondrial-nuclear genetic interaction processes significantly influence common disease development. Because the genetic selection processes for mitochondrial-nuclear interactions are influenced by survival and reproductive success, the changing environmental challenges from original prehistoric conditions to contemporary (along with increased lifespan) have significantly affected cell function. In this regard, his work explores the influence of “mito-Mendelian” genetics upon bioenergetics, inflammation, metabolism, and nuclear gene expression. For these studies, he invented and has developed the Mitochondrial – Nuclear eXchange (MNX) model that enables unambiguous testing of mitochondrial and nuclear genetic backgrounds upon cell function and disease development. From this research, it is becoming clear that “mito-Mendelian” genetics influences cell function and response to acute and chronic stimuli. Consequently, the genetic basis for disease is not based solely upon Mendelian nor mitochondrial genetics but is the consequence of “mito-Mendelian” genetics. This concept is paradigm challenging. Current laboratory projects investigate the role for mito-Mendelian genetics upon various metabolic diseases (cancer, cardiovascular, ulcerative colitis and obesity).

Greg Barsh, Ph.D.

Dr. Barsh is an investigator and Faculty Chair at HudsonAlpha. His research focuses on the genetic mechanisms that underlie differences in individual appearance and for which a deeper understanding promises new insight into both basic biology and human disease. He also serves as co-PI for the SouthSeq project (part of the CSER Consortium) and the Alabama Genomic Health Initiative.

David Bedwell, Ph.D.

Dr. Bedwell is chair of the UAB Department of Biochemistry and Molecular Genetics. A major goal of Dr. Bedwell’s lab is to develop therapies to treat genetic diseases caused by premature termination codons (PTCs). His team is using a combination of genomics, genetics, biochemistry, and cell biology to better understand the molecular details of translation termination to develop viable therapeutic strategies aimed at suppressing PTCs and restoring expression of full-length, functional protein. One disease currently under active investigation is cystic fibrosis (CF). Roughly 10% of CF patients carry a PTC in the CFTR gene. Dr. Bedwell’s group has identified compounds that suppress termination at PTCs in the CFTR gene by promoting the insertion of an amino acid at the site of the PTC. They are examining these so-called “readthrough” agents in various experimental models, including cultured CF cells, transgenic and knock-in CF mice, and CF patients. They have also identified the amino acids that become inserted during the suppression of PTCs in mammalian cells and are using that information to develop strategies to enhance the CFTR activity restored by PTC suppression using CFTR correctors and potentiators. Other diseases Dr. Bedwell is using to study the utility of this approach include neurofibromatosis, FOXG1 deficiency, NF1, Rett syndrome, and Hurler syndrome. Ultimately, successful development of this therapeutic approach will allow us to treat a broad range of human genetic diseases caused by PTCs.

Smita Bhatia, MD

Dr. Bhatia is a Professor in the UAB Department of Pediatrics. Her research interests include developing an understanding of the burden of morbidity borne by cancer survivors, identifying those at highest risk, exploring the molecular pathogenesis of long-term complications, and developing interventions to mitigate this burden of morbidity. She has used genomic approaches to identify potential risk factors for post-treatment morbidity.

Elizabeth Brown, Ph.D., MPH

Dr. Brown is a Professor in the UAB School of Public Health. The research conducted in her laboratory is targeted to advance the understanding of aberrant immune function common to inflammatory-mediated chronic diseases, such as select autoimmune diseases as well as multiple myeloma and related precursor states, each with underlying B cell pathology. She uses a multidisciplinary functional genomics approach to explore pathways involved in chronic immune perturbation, inflammation as modifiers of disease, and B cell homeostasis. The objective of this research is to identify and validate molecular biomarkers, which may be used to target high-risk populations to improve disease surveillance and modify therapeutic intervention leading to significant reductions in morbidity and mortality associated with advanced stage disease.

Chenbei Chang, Ph.D.

Dr. Chang is a Professor in the UAB Department of Cell, Development, and Integrative Biology. Her research is focused on understanding growth factor signaling in cell differentiation, patterning and movement. She uses the vertebrate model, Xenopus laevis, in her studies. She has applied this model to the elucidation of potential disruption of gene products resulting from variants of unknown significance resulting from clinical genome sequencing studies.

Jake Chen, Ph.D.

Dr. Chen is the Chief Bioinformatics Officer at UAB Informatics Institute and a Professor of Genetics, Computer Science, and Biomedical Engineering. His research focuses on building quantitative biomolecular systems models from genomic and clinical big data, thus helping understand, simulate, and predict complex disease biology outcomes.

Greg Cooper, Ph.D.

Dr. Cooper is a faculty investigator at HudsonAlpha. His research has focused on understanding the structures, functions and evolutionary histories of individual human genomes and finding ways to translate that understanding into useful predictions about human health and disease. He has developed computational approaches to characterization of genomic variants identified through genome sequencing, is active in the UAB Undiagnosed Diseases Program, and is co-PI of SouthSeq, part of the NHGRI-funded Clinical Sequencing Evidence-Generating Research Consortium.

Sara Cooper, Ph.D.

Dr. Cooper is a faculty investigator at HudsonAlpha. Her work is focused on using genomic and metabolomic technologies primarily in pancreatic cancer, with a particular interest in chemoresistance. The goal of these studies is to inform patient care and nominate novel treatment strategies. Dr. Cooper’s technical expertise in both metabolomics and genomics have led her to collaborate widely, resulting in publications that occasionally go beyond her cancer focus. Current and recent projects cover pancreatic cancer, ovarian cancer, glioblastoma, and neuropsychiatric disease. She also leads the Institute’s Information is Power community outreach effort which offers free and reduced cost genetic testing for hereditary cancer risk.

Jeremy Day, Ph.D.

Dr. Day is an Associate Professor in the Department of Neurobiology at the University of Alabama at Birmingham. His laboratory uses CRISPR/Cas9 and single cell sequencing approaches to explore the relationship between transcriptional/epigenetic states and neuronal function, with an emphasis on the brain circuits that regulate motivated behavior.

Anindya Dutta, Ph.D.

Dr. Dutta is the Chairman and a professor in the Department of Genetics at UAB. His research interests cover genomic instability in cancer cells and noncoding RNAs in differentiation and cancer. His laboratory identified many of the replication initiation proteins in human cells, used genomics technology to identify hundreds of origins of replication in human chromosomes, discovered a major mechanism by which human cells prevent over-replication of their DNA, and identified a novel class of circular DNA present in normal mammalian cells His laboratory has also discovered many microRNAs that inhibit cell proliferation and promote differentiation during the conversion of muscle stem cells to mature muscle and microRNAs that contribute to the phenotypes of advanced prostate cancer. He has trained over thirty scientists who continue research in academia or industry, and has received the following honors: Elected Fellow of the AAAS, Ranbaxy Award for studies on genome instability and the Outstanding Investigator Award of the American Society for Investigative Pathology.

John L. Hartman, MD

Dr. Hartman is an Associate professor in the Department of Genetics at UAB. His past research training has included clinical and molecular studies of sickle cell anemia, basic immunology, molecular genetics of cystic fibrosis, biochemistry of G-protein signaling, and yeast genetics. Dr. Hartman has pioneered methods for yeast high throughput phenotyping technology, which have been used in a broadly collaborative manner over a range of research models. His research interests relate to understanding how gene-gene, gene-nutrient, and gene-drug interaction influence phenotypic expression and disease.

Anita Hjelmeland, Ph.D.

Dr. Hjelmeland is Associate Professor of Cell, Developmental and Integrative Biology and 2018 Pittman Scholar. She has led studies that determined effects of nitric oxide and the tumor microenvironment (hypoxia, acidic stress, glucose restriction) on GBM growth and BTIC maintenance, identified novel BTIC regulators, and demonstrated the efficacy of anti-GBM therapies. Her research focuses on defining the similarities and differences in molecular mechanisms (including in the genome, transcriptome, and epigenome) of stem cell maintenance between NPCs and BTICs isolated from patient derived xenografts.

Ryan Irvin, Ph.D., MS

Dr. Irvin is an Associate Professor in the UAB Department of Epidemiology. Her research is focused on cardiovascular genomics and pharmacogenomics, including antihypertensive treatment response, lipid-lowering drug response, and lipid metabolism. She is involved in the identification and characterization of genomic, epigenomic, and metabolomic variation important to drug response and cardiovascular phenotypes.

Robert Kimberly, MD

Dr. Kimberly is Professor of Medicine and the Howard L. Holley Research Chair of Rheumatology. Dr. Kimberly’s research is focused on the role of genetic factors, specifically receptors for immunoglobulins, in the normal function of the immune system and in the development of autoimmune and immune-mediated inflammatory diseases such as systemic lupus erythematosus and systemic vasculitis. His interests focus on translational research in autoimmune diseases including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and the systemic vasculitides. Dr. Kimberly is Principal Investigator for the CTSA Hub at UAB.

Christopher Klug, Ph.D.

Dr. Klug is a Professor of Microbiology, Biochemistry and Genetics at UAB. His research interests focus on stem cell biology, mechanisms driving leukemia and pancreatic cancer progression, and development of large-scale drug screening approaches for discovery of novel therapeutic approaches for treatment of leukemia. He directed the signature initiative in personalized medicine at UAB that focused on acute myeloid leukemia, which focused on tissue banking, integration of genomics approaches in the clinical evaluation of newly diagnosed and relapsed AML cases, and development of platforms for discovery of novel therapeutic approaches for potential treatment of refractory AML patients.

Bruce Korf, MD, Ph.D.

Dr. Korf is Associate Dean for Genomic Medicine and Chief Genomics Officer at UAB. His research focuses on the diagnosis and treatment of rare genetic disorders. He is principal investigator of the NF Clinical Trials Consortium and leads a group at UAB developing genomic-guided therapeutics for NF1 aimed to restore function to the mutated gene or gene product. He is co-PI of the Alabama Genomic Health Initiative, providing genotyping and return of results of medically actionable variants to adult volunteers and whole genome sequencing for children and adults with undiagnosed genetic conditions. He is also co-PI of SouthSeq, part of the CSER Consortium, in which genomic sequencing is being used to establish diagnoses in critically ill newborns and includes a clinical trial of return of results by nursery staff specially trained by study personnel. Dr. Korf is contact PI for the All of Us Southern Network, part of the NIH All of Us Research Program.

Elliott Lefkowitz, Ph.D.

Dr. Lefkowitz is a Professor in the UAB Department of Microbiology and Director of the UAB AIDS Center Biological Computing Resource Facility that is now part of the institution-wide Informatics Facility of the UAB Center for Clinical and Translational Science. In these positions, he oversees a team of Bioinformaticians and Systems Analysts who work and collaborate with UAB investigators to provide them with the broad range of tools and expertise necessary to support all of their bioinformatics needs. Dr. Lefkowitz’s own research interests are directed at contributing to the understanding of microbial genomics and evolution by developing and utilizing computational tools and bioinformatics techniques to mine sequence and other data for significant patterns characteristic of function and evolution.

Nita Limdi, MSPH, PharmD, Ph.D.

Dr. Limdi is a Professor in the UAB Department of Neurology. She is a clinical pharmacist and epidemiologist with significant expertise in pharmacogenomics and pharmacoepidemiology, from research and discovery to its application and implementation in clinical practice. Her research portfolio encompasses studies with both observational and a clinical trial designs and is focused on understanding the multiple factors that influence drug efficacy and safety, specifically anticoagulant and antiplatelet response. An established investigator in the field of pharmacogenomics, she has made significant contributions towards understanding of genetic basis of warfarin response. Her work has included discovering novel polymorphisms in CYP2C9, statistical analytic approaches that has ranged from candidate gene, haplotype-based approach to genome-wide association and exome approaches, and a research portfolio that includes both prospective cohort and randomized clinical trials. Through her work, Dr. Limdi has collaborated extensively with pharmacogenomics researchers including with the International Warfarin Pharmacogenomics Consortium (IWPC), the Clinical Pharmacogenetics Implementation Committee (CPIC), and the Implementation of Genomics In pracTicE (IGNITE). As the Associate Director of Pharmacogenomics n the Hugh Kaul Personalized Medicine Institute, Dr. Limdi oversees discovery and clinical implementation of pharmacogenomics across the health UAB system. Through this initiative, her team has identified and overcome barriers, incorporated genotype-guided therapy and assessed clinically relevant outcomes to conduct economic analysis and inform health policy and reimbursement strategies for pharmacogenomics.

Gang Liu, MD, Ph.D.

Dr. Liu is a Professor in the Division of Pulmonary, Allergy and Critical Care Medicine at UAB. His laboratory is focused on molecular mechanisms underlying lung injury and repair, with emphasis on cellular metabolism, immunology and non-coding RNA.
Farah Lubin, PhD. Dr. Lubin is an Associate Professor in the UAB Department of Neurobiology. Her research is focused on investigating the molecular and genetic basis of learning, memory and its disorders. The goal of these studies is to elucidate the role of genetic and epigenetic mechanisms in the on and off regulation of gene transcription during the consolidation of memory. These studies will provide novel insights into novel candidate transcriptional mechanism that may be involved in abnormal regulation of genes underlying memory deficits associated with neurological disorders such as epilepsy and Alzheimer’s disease.

Matthew Might, Ph.D.

Dr. Might is Director of the Hugh Kaul Precision Medicine Institute. His research focuses on precision prevention, diagnosis and therapeutics across rare disease, cancer, and common/chronic conditions. A principal theme in his research is the use of computer and data science to enhance clinical and academic medicine.

Richard Myers, Ph.D.

Dr. Myers is President and faculty investigator of the HudsonAlpha Institute for Biotechnology. His lab uses DNA sequencing and other high-throughput methods to identify genetic variants and to measure gene expression, transcription factor occupancy, and epigenetic variation on a comprehensive, genome-wide level. For decades, a significant part of his research has been in large collaborative efforts, including the Human Genome Project, the ENCODE Project, The Cancer Genome Atlas, and the Pritzker Neuropsychiatric Disorders Research Consortium, and he has served as PI and coordinator for our efforts in these projects. In addition, his laboratory performs directed biological research on human diseases and basic problems in gene regulation.

John Parant, Ph.D.

Dr. Parant is an Associate Professor in the UAB Department of Pharmacology and Toxicology. The focus on his lab is the study of how germline or acquired mutation result in disease states, specifically in the context of cancer predispositions and birth defects. The Parant lab uses genomic editing in both mouse and zebrafish models to address needs for functional genomic studies of genomic variants.

Haydeh Payami, Ph.D.

Dr. Payami is a Professor and Endowed Chair in Neurology at UAB. Her research is focused on the interaction of the microbiome with human genome and environmental factors in the etiology, progression, and treatment of neurodegenerative disorders. She is the founder and the lead investigator of the NeuroGenetics Research Consortium. NGRC is one of the largest and most prolific genomic data sets on Parkinson’s disease (PD), and one of the few that genomic, exposure and microbiome data – creating a rich data set for research and training. The mission of Payami lab is to identify the human and microbial genes that interact with environmental risk factors, the goal being to predict who is at risk of developing disease and what can be done to avoid it; genes that modulate age at onset and disease progression, hoping to learn ways to slow or stop the disease; and factors that affect efficacy and toxicity of drugs, so that treatments can be personalized for maximum benefit.

Craig Powell, MD, Ph.D.

Dr. Powell is Professor and Chair of Neurobiology and Director of the Civitan International Research Center at UAB. He also Chairs the oversight committee for UAB’s Behavioral Core facilities. He has expertise in preclinical models of autism risk genes. Dr. Powell’s work characterizing genetic mouse models for autism based on Neuroligin-3, Neuroligin-1, Neurexin-1, PTEN, Shank3, Kctd13, and other genetic causes of autism provides clear evidence of feasibility of the genetic model portion of the attached proposal. Dr. Powell’s genomic medicine interests are in creating accurate genetic animal models, transcriptomic and proteomic analysis of brain in such models, and in deep phenotyping of specific, rare genetic causes of neurodevelopmental disorders in human subjects.

David Schneider, Ph.D.

Dr. Schneider is a Professor in the Department of Biochemistry and Molecular Genetics at UAB. He is also an Associate Dean in the UAB Graduate School, directing the largest doctoral training program at UAB (Graduate Biomedical Sciences, www.uab.edu/gbs). His lab is focused on defining the mechanisms that control early steps in eukaryotic ribosome biosynthesis, deploying a wide array of biochemical, genetic and genomic methods.

Keshav K. Singh, Ph.D.

Dr. Singh is a Professor in the UAB Department of Genetics. His research is focused on underlying mechanisms of mitochondria-to-nucleus retrograde signaling, “intergenomic” cross talk, genomic instability, and its role in cancer and other human diseases. Dr. Singh’s translational research includes developing agents and methods that can detect and reverse mitochondrial defects in cells and identify potential "mitomutagens," which may contribute to development of human pathology.

Barry Sleckman, MD, Ph.D.

Dr. Sleckman serves as the Director of the O’Neal Comprehensive Cancer Center at UAB. His laboratory has focused on elucidating the molecular pathways required for normal lymphocyte development and on understanding how DNA repair and DNA damage response pathways regulate lymphocyte development and function, preserve genome stability and prevent lymphocyte transformation. His laboratory was the first to show that DNA damage responses provide signals that regulate cell-type specific processes that are not required for DNA repair. In addition, his lab discovered DNA damage response pathways that do not function in normal DNA repair. Rather, they function to prevent unrepaired DSBs from being aberrantly repaired as potentially dangerous chromosomal translocations and deletions.

David Standaert, MD, Ph.D.

David G. Standaert MD, PhD is Professor and Chair of the Department of Neurology. His primary research interest is translational studies in neurodegenerative diseases. His laboratory is engaged in a variety of studies relevant to this program, including evaluation of novel therapeutics in animal model systems, genetic and genomic studies, and human clinical trials. Recently, his group has focused on the role of neuroinflammatory reactions in progression of Parkinson disease.

Alan Tita, MD, Ph.D.

Dr. Tita is the John C. Hauth, MD Endowed Professor of OBGYN, Vice-Chair for Research, Director of the Center for Women’s Reproductive Health and PI of the NICHD Maternal Fetal Medicine Units (MFMU) network center. Dr. Tita has led and continues to lead the design and conduct of collaborative multi-site and single-site clinical trials and observational studies that influence practice and policy globally such as the optimal timing of cesarean delivery at term and use of adjunctive azithromycin for cesarean delivery prophylaxis. He is the PI/PD of the Clinical Coordinating Center of the NHLBI-funded multicenter treatment trial of chronic hypertension in pregnancy (CHAP) at over 60 US sites. He is the project co-PI and lead for the Gates Foundation and NICHD co-funded multinational trial of azithromycin to prevent death and sepsis in labor in LMICs (A-PLUS) within the NICHD Global Network. He also leads the Cameroon Health Initiative at UAB a multidisciplinary venture to improve health care in collaboration with Cameroon partners.

Hemant Tiwari, Ph.D.

Dr. Tiwari is William “Student” Sealy Gosset Professor in Biostatistics in the School of Public Health at UAB. His current research interests include Genetic Linkage Analysis, Genome-Wide Association Studies, Structural variations (SV), Epigenetics, Pharmacogenetics/Pharmacogenomics, RNA-Seq, Whole Genome Sequencing (WGS), Exome sequencing, Pathway and Network analysis, Bioinformatics, Metabolomics, mitochondrial genetics and Population Genetics. He has extensive record of productive collaborations in searching for genes for obesity, diabetes, cardiovascular diseases, Rheumatoid Arthritis, SLE, Stroke, Cancer, and Multiple Sclerosis, to name few.

Trygve Tollefsbol, Ph.D.

Dr. Tollefsbol is a UAB Professor of Biology and a senior scientist in the UAB Comprehensive Cancer Center, Comprehensive Center for Healthy Aging, Nutrition Obesity Research Center, and the Comprehensive Diabetes Center. He is director of the UAB Cell Senescence Culture Facility, which he established in 1999. Dr. Tollefsbol’s laboratory is focused on epigenetics, nutritional intervention, and cancer preventive approaches.

Deann Wallis, Ph.D.

Dr. Wallis is an Associate Professor in the UAB Department of Genetics. She runs a research program focused on neurofibromatosis type 1 (NF1), a RASopathy, that causes learning disabilities, macrocephaly, optic glioma, disfigurement, congenital abnormalities of the bone, scoliosis, and/or hypertension, and increased risk of developing malignant tumors. Her studies center around genome-targeted therapeutics. Her laboratory is establishing predictive patient-specific cell culture model systems (HEK293, Schwann cells, and human iPSCs) to look at the function of the NF1 gene and serve as preclinical models to test new drug therapies. She has extensive experience with stem cell models and differentiation of stem cells into pan-neuronal cultures, Schwann cells, and melanocytes. In addition, she has partnered with others in the field to develop animal models with analogous mutations so that both cell lines and animal models can be used to characterize function and therapeutics. She is evaluating antisense oligos for splice modulation, nonsense suppression therapeutics, nanoparticle delivery of NF1 cDNA, and both ribozyme and CRISPR/Cas9 based genome editing.

Lizhong Wang, Ph.D.

Dr. Wang is an Associate Professor in the UAB Department of Genetics. His current interests focus on using cancer genetics, epigenome editing and mouse models to identify cancer-causing genes, targets, pathways, and new therapeutic approaches in human cancers. His research group has established the new concept of epithelial FOXP3 as the first X-linked tumor suppressor gene in breast cancer (Cell, 129: 1275-86, 2007) and in prostate cancer (Cancer Cell, 16: 336-46, 2009). Recently, he has taken a new research direction to pursue innovative projects in identifying FOXP3-mediated gene network in breast cancer and developing genetically engineered animal models. He focused on identifying the molecular mechanism of FOXP3-regulated signaling pathways in tumor cells, which is very important for a better understanding of tumor suppression (Cancer Res, 2015, 75:1703-13; Cancer Res, 2015, 75:1714-24; Cancer Res. 79:1413-25, 2019). Recently, he has developed a novel epigenome-editing method to reactivate the endogenous FOXP3 at the X-inactivated allele for therapeutic purposes. Furthermore, he also utilized new approaches with both forward and reverse genetics to develop more human-like cancer animal models, which will aid the search for cancer-causing genes and improve the predictive value of laboratory cancer drug testing. In addition, apart from the tumor suppressor FOXP3, his research also focused on identifying the functional role of the potential oncogene CD24 in the development and progression of prostate cancer (Nat Commun, 6:5909, 2015; Clin Cancer Res. 22:2545-54, 2016, Prostate. in press 2020).

Elizabeth Worthey, Ph.D.

Dr. Worthey is an Associate Professor at UAB in the Department of Pediatrics and the Director for the newly created Center for Computational Genomics and Data Science in the Departments of Pediatrics and Pathology. She is also the Director of the Bioinformatics Section in the Division of Genomics Diagnostics and Bioinformatics. Her lab applies cutting-edge technologies to identify and understand molecular alterations’ impact in disease causation, progression, outcome, and treatment. She has a focus on rare, undiagnosed, or mis-diagnosed disease. Her group not only performs analysis to understand the molecular underpinnings of disease, but also develops methods and tools to support these analyses. They have diagnosed hundreds of patients with rare diseases and have identified or assisted with identification of new genetic causes for dozens of diseases. The tools they have developed have supported diagnosis of thousands more. She has a sincere and longstanding commitment to teaching and mentoring individuals in the fields of computational genomics, genetics, and genomics-based precision medicine

Eddy Yang, MD, Ph.D.

Dr. Yang is a Professor in the UAB Department of Radiation Oncology. He is interested in the molecular pathways that could be targeted for cancer therapies. To address these interests, he has acquired the Nanostring nCounter platform which performs targeted gene expression, microRNA, protein, and/or other profiling. This will allow the discovery of tumor subtypes and prognostic signatures to effect patient therapies. Additionally, his group aims to inhibit DNA repair pathways to enhance tumor susceptibility to DNA damage. They have been investigating the role of the epidermal growth factor receptor (HER/EGFR) family in DNA damage and repair. Additionally, they are interested in the protection of hippocampal neurons from radiation induced apoptosis by increasing DNA repair capacity in irradiated cells.

Bradley K. Yoder, PhD

Dr. Yoder is Professor and Chair of the UAB Department of Cell, Developmental and Integrative Biology. His research has focused on the cellular and molecular mechanisms regulating assembly, maintenance, and function of the primary cilium utilizing complementary approaches in mice, C. elegans, and in cell culture models. Work from his laboratory has used genetic screens in C. elegans to identify proteins required for ciliogenesis and cilia mediated signaling activities and how these genes function in pathways (e.g., Daf-2 Insulin/IGF-like pathway) that regulate life span and energy homeostasis. His group has analyzed in mammalian systems how the cilium regulates critical developmental pathways and how the loss of the cilium causes abnormalities in left-right body axis specification, limb and tooth patterning, skin, and hair follicle morphogenesis, and impairs endochondral bone formation. His group is also providing critical fundamental insights into the connection between ciliary dysfunction and cystic kidney disorders, and novel roles for neuronal cilia in the regulation of satiation responses, disruption of which causes obesity and type II diabetes.

Zechen Chong, Ph.D.

Dr. Chong is an Assistant Professor in the UAB Department of Genetics. His research is focused on genomics and bioinformatics, especially the characterization and mechanisms of structural variations. His group is developing innovative algorithms for structural variant discovery using long reads sequencing data and his group is also conducting hypothesis-driven data analysis projects using large-scale consortium data.

Costanza Cortes, Ph.D.

Dr. Cortes is an Assistant Professor in the UAB Department Cell, Developmental and Integrative Biology. The Cortes lab takes a cutting-edge approach to understanding brain plasticity and brain aging, examining how distant tissues such as skeletal muscle may be fundamentally influencing the rate at which our brain ages and the development of age-associated neurodegenerative diseases. They employ genomic and genetic analysis to explore transcriptional and epigenetic changes that may underly aging of the central nervous system, particularly focusing on secreted, circulating factors.

Brittany Lasseigne, Ph.D.

Dr. Lasseigne is an Assistant Professor in the Department of Cell, Developmental and Integrative Biology, an Associate Scientist in both the O’Neal Comprehensive Cancer Center Experimental Therapeutics Program and the Center for Clinical and Translational Sciences, and a Scientist in both the Informatics Institute and the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham. The Lasseigne Lab uses genomic strategies and data to study both common and rare diseases with the goal of discovering biological signatures that might be used to improve patient care and provide insight into molecular processes contributing to disease. By integrating genomic data, functional annotations, and patient information with machine learning they aim to identify genome-driven therapeutic targets and biomarkers by liquid biopsy and understand how context dependency contributes to human diseases.

Merry-Lynn McDonald, MSc, Ph.D.

Dr. McDonald is an Assistant Professor of Medicine and the Director of Integrative ‘Omics in the Division of Pulmonary, Allergy, and Critical Care Medicine at the University of Alabama at Birmingham (UAB). Dr. McDonald is a genetic epidemiologist with interests in the analysis of complex traits and diseases including chronic obstructive pulmonary disease (COPD), cachexia, sarcopenia, osteoarthritis, and smoking behaviors. Her lab is involved with some of the most cutting-edge studies including the Million Veterans Program (MVP) and the Trans-Omics for Precision Medicine (TOPMed) Initiative.

Gregg Rokosh, Ph.D.

Dr. Rokosh is an Associate Professor in the Department of Medicine. His research has focused on mechanisms underlying myocardial response to stress and injury. His studies over several years had focused on G-protein receptor coupled functions with transition to examining stromal cell-derived factor 1alpha (SDF1) – CXCR4 signaling in myocardial protection and regeneration. These studies have now evolved to examine the role of the role of this SDF1-CXCR4 signaling in cardiac development and regeneration in embryonic and early postnatal growth. These studies include comprehensive study of epigenetic regulation and its impact on relevant signaling pathways. He has also expanded these early studies to examine the role of neutrophils in chronic heart failure. This is a relatively new project where he has defined a role for neutrophils in chronic heart failure and aim to expand knowledge of the mechanisms by which neutrophils affect myocardial function and remodeling after initial injury. He will be examining direct effects of neutrophils on myocardium including via increased neutrophil numbers via granulopoiesis and chemotaxis, damaging effects via NETosis, granular release, altered subtype distribution or activation, and effects on other innate and adaptive immune cells.

Summer Thyme, Ph.D.

Dr. Thyme is an Assistant Professor in the Department of Neurobiology at the University of Alabama at Birmingham School of Medicine. Her research focuses on generating genetic models of human mutations in zebrafish and assaying the resulting neurological phenotypes. Her long-term goals are to uncover the molecular basis of complex neurodevelopmental diseases and eventually create therapies. She recently generated one of the largest collections of zebrafish mutants for genes linked to schizophrenia, and assessed their brain activity, brain structure, and behavior (Thyme, et al., Cell 2019). Her prior research background was in establishing and improving genome-engineering reagents, which laid the foundation for this large-scale study of schizophrenia. She has broad expertise in biochemistry, molecular biology, genetics, protein modeling and engineering, neurobiology, and many computational techniques.

Adam Wende, Ph.D.

Dr. Wende is an Associate Professor in the UAB Department of Pathology. Work in the Wende laboratory has two primary goals: 1) to determine the role of metabolic substrate switching in the hearts of individuals with diabetes or heart failure, and 2) to define the role of cellular glucose delivery on post-translational regulation of mitochondrial enzyme activity and epigenetic regulation of gene expression that together may lead to the development of diabetic cardiomyopathy. The primary goal of his R01-funded research is to determine the role glucose fluctuations in the regulation of DNA methylation in transgenic models of glucose uptake and diabetes models. Other projects in the laboratory include determining the role of the protein post-translational modification O-GlcNAc in regulating cardiac cellular function and define the role that changes in glucose levels have on long-lasting epigenetic regulation of gene expression in a process termed “glycemic memory”. Recent studies include work defining these molecular pathways in human heart failure biopsies to determine etiology specific epigenetic signatures. Finally, he has begun work looking at human samples to define racial differences in epigenetic changes that in turn impact susceptibility to diabetes and heart failure. By determining these molecular signatures of altered protein regulation and DNA structure/regulation we aim to provide critical knowledge to determining future therapeutic interventions for diabetic and heart failure patients.

David Bick, MD

Dr. Bick is the chief medical officer and a faculty investigator at the HudsonAlpha Institute for Biotechnology, the medical director of The Smith Family Clinic for Genomic Medicine, LLC., and a laboratory director in the HudsonAlpha Clinical Services Laboratory, LLC. As a leader in the field of genomic medicine, Bick has published numerous peer-reviewed articles, chapters, and reviews. Bick’s laboratories at the Medical College of Wisconsin and Children’s Hospital of Wisconsin were the first in the world to offer whole genome sequencing as a clinical test.

Andrew Carroll, Ph.D.

Dr. Andrew Carroll is a Professor in the Department of Genetics at UAB. He is certified by the American Board of Medical Genetics and Genomics (ABMGG) in Clinical Cytogenetics and in PhD Medical Genetics. He currently serves as the Director of the Clinical Cytogenetics Laboratory, which provides diagnostic cytogenetics services by performing chromosome analysis, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA) clinical testing on cells derived from a wide variety of tissues. His research interests focus on the identification of recurring acquired chromosome abnormalities associated with the onset of chronic and acute leukemia with emphasis on acute lymphoblastic leukemia in children.

James Cimino, MD, Ph.D.

Dr. Cimino is Professor of Medicine and Director of the UAB Informatics Institute. He has an active research program in clinical informatics, as well as building clinical information systems, teaching medical informatics and medicine, and caring for patients, rising to the rank of full professor in both Biomedical Informatics and Medicine. He has worked closely with Dr. Korf in developing informatics systems as part of the Alabama Genomic Health Initiative and the All of Us Southern Network, and works with Dr. Limdi in developing the systems to integrate polygenic risk scores into the electronic health record.

David Crossman, Ph.D.

Dr. Crossman is an Associate Professor in the UAB Department of Genetics and the Bioinformatics Director for the Genomics Core facility at UAB. He collaborates with investigators all over UAB and around the world on Big Data analysis for grants and manuscripts. He helped train two of the T32 trainees in the last several years. The first trainee had her own RNA-Seq and targeted gene panel sequencing projects and he helped provide her with how to properly identify differentially expressed genes and causal variants. The second trainee was involved in better annotating variants from the Undiagnosed Disease Program and he helped provide him with the data as well as analysis pipelines for the annotation steps.

Mona Fouad, MD, MPH

Dr. Fouad, a National Academy of Medicine member, is a Professor of Medicine, Director of the UAB Division of Preventive Medicine, Director of the UAB Minority Health and Health Disparities Research Center (MHRC), and Senior Associate Dean of Diversity and Inclusion in the UAB School of Medicine. She is a Senior Scientist in the Integrative Center for Healthy Aging and the Clinical Nutrition Research Center and was a member of the NIH National Advisory Council on Minority Health and Health Disparities. Dr. Fouad serves as PI on two federally funded projects and Co-PI on additional grants, most with the common theme of improving health and preventing disease in minorities. She serves as the PI of the NIDDK-funded short-term national training program STEP-UP: Promoting Diversity through Mentored Research Experiences, and as Co-PI of the NIA-funded Deep South Resource Center for Minority Aging Research (RCMAR) since 2007. She serves as PI for the UAB Obesity Health Disparities Research Center (NIMHD U54) and has also served as Site PI for the National Research Mentoring Network (NRMN) Southeast Hub, which provided Mentors to assist with the career development of underrepresented minority scholars. Dr. Fouad has established strong relationships with HBCUs throughout the Southeast and implemented a series of training programs for minority undergraduate and graduate students, as well as training and career development programs for minority junior faculty and young investigators interested in minority health or health disparities research.

Anna C. E. Hurst, MD, MS

Dr. Hurst is an Assistant Professor in the UAB Department of Genetics. She is a clinician for the UAB Undiagnosed Disease Program, Turner syndrome clinic, and general genetics clinic, and she provides hospital consultations for inpatients at UAB and Children’s of Alabama. She leads the Children’s of Alabama Genome Sequencing (COAGS) research study and is an investigator with the Alabama Genomic Health Initiative and SouthSeq research genome projects. Her research focuses on expanding the availability of genomic sequencing for children with complex healthcare needs. She is also the Associate Program Director of the UAB Genetics Residency programs and Medical Director of the UAB Genetic Counseling Training Program.

Neil Lamb, Ph.D.

Dr. Lamb is a faculty investigator and Vice President for Educational Outreach at the HudsonAlpha Institute for Biotechnology. Dr. Lamb completed his PhD and postgraduate training at Emory University in Atlanta where he was a faculty member in human genetics and responsible for lab management, bioethics oversight and genetic education in the school of medicine. His career shifted from hands-on science to science education when he realized that he had found his true calling: inspiring a passion for human genetics and technology in others. He joined HudsonAlpha in 2006 to lead the educational outreach team in creating innovative teacher training, student experiences, public enrichment, classroom kits and digital resources that reshape how science education is delivered. This past year, more than 1.2M students, educators, practitioners and members of the general public were impacted by these efforts. In the Genomic Medicine Training Program, Dr. Lamb serves as a guide to all trainees to educational opportunities at HudsonAlpha.

Ghunwa Nakouzi, Ph.D.

Dr. Nakouzi directs the Clinical Service Laboratory at HudsonAlpha Institute for Biotechnology which focuses on genomic testing for rare, previously undiagnosed inherited disorders as well as population screening programs. Nakouzi received her PhD in Genetics from Case Western Reserve University in 2009. She completed her clinical fellowship training at University Hospitals-Cleveland Medical Center and is board certified in clinical molecular genetics and clinical biochemical genetics. Until recently, Nakouzi maintained her biochemical genetics experience by serving as assistant medical director of the Biochemical Genetics Lab at the Cleveland Clinic. Nakouzi has experience in both molecular and biochemical genetic clinical assay development and validation. Her dual-specialty empowers her with knowledge in a wide array of genetic disorders and with the ability to correlate results from molecular and biochemical tests to reach more accurate diagnoses for patients.

Fady Mikhail, Ph.D.

Dr. Mikhail is a Professor in the UAB Department of Genetics and the Co-Director of the Clinical Cytogenetics Lab in the Department of Genetics. His research interests include identification of novel constitutional genomic disorders caused by microdeletions and microduplications using array CGH methodologies with special interest in neurodevelopmental disorders, and characterization of the clinical phenotype, molecular breakpoints, as wells as the mechanism of rearrangement. Also, he is interested in identification of novel cytogenetic rearrangements in patients with various hematological malignancies that might have a causal role in the oncogenic process using molecular cytogenetic techniques including FISH and array CGH, and identification of the underlying genes.

Mariko Nakono-Okuno, Ph.D.

Dr. Nakano-Okuno is Assistant Professor of Bioethics at UAB. She specializes in ethics and bioethics. Dr. Nakano-Okuno serves as Co-Chair of the Bioethics Working Group for the Alabama Genomic Health Initiative, a state-funded genomic initiative begun in 2017, in addition to her roles in developing and implementing ethics curriculum in the UAB School of Medicine and in serving on ethics committees at the UAB Hospital and Children’s of Alabama Hospital. She has published extensively on bioethics, ethics education, and moral philosophy, including articles in Genetics in Medicine, American Journals of Bioethics, Journal of Genetic Counseling, Stem Cell Reviews and Reports, Etica & Politica, and multiple articles in Japanese. Her book Sidgwick and Contemporary Utilitarianism (Palgrave Macmillan, 2011) systematically analyzes the philosophical foundations of contemporary ethical theories, and her essay “Thinking about QOL” (in Happiness and Medicine, Iwanami Shoten, 2004) analyzes multilayered impacts of medicine and healthcare on a person’s internal happiness and well-being.

Nathaniel Robin, MD

Dr. Robin is a Professor in the UAB Department of Genetics and serves as Clinical Director of Medical Genetics. He has an active clinical genetics practice; his main interests are in orofacial clefting and craniofacial genetics, and genetic cardiovascular disease, including Marfan syndrome. He is also director of the medical genetics residency programs, and supervises the educational activities of the department with respect to the UAB School of Medicine as well as all other UAB residency programs. Dr. Robin is also very active in the medical genetics education at the UAB School of Medicine, where he lectures throughout years 1-4. He is past President of the Medical Genetics Residency Directors' Group.

Lisa Schwiebert, Ph.D.

Dr. Schwiebert is a UAB Professor of Cell, Developmental and Integrative Biology and Senior Associate Dean for Graduate and Postdoctoral Affairs. Dr. Schwiebert’s laboratory was the first to demonstrate the effects of aerobic exercise on cellular and molecular responses in a mouse model of allergic asthma. With regard to training efforts, Dr. Schwiebert served as the primary mentor for a total of nine trainees, including three graduate students, four postdoctoral fellows, and two clinical fellows; the majority of these trainees currently hold tenure-track faculty appointments at top-tier institutions, including Duke University, the University of Texas and UAB. Dr. Schwiebert has also served on more than 20 graduate student dissertation and postdoctoral career development committees and is preceptor on five UAB NIH-funded training grants.