My work focuses on the host genetic susceptibility to infectious disease. Infectious diseases are classic complex diseases with both genetic and environmental factors involved in susceptibility and progression of disease. My main research is to identify the host genes that control susceptibility and immunity to infection. Internationally, I work with adult and pediatric populations within the United States and Internationally (Bangladesh, Brazil) to identify host genes associated with parasitic (E. histolytica, Cryptosporidium, Giardia) and viral (hepatitis C, human immunodeficiency virus, rotavirus) infections. I am especially interested in the role of malnutrition in diarrheal disease and the identification of ancestry specific mutations. I also evaluate the host genetic analysis of vaccine response, specifically focused on identifying genes that may contribute to vaccine failures for existing and experimental vaccines. Outside of the applied studies I work towards improving and evaluating genetic methodologies. I am the director of the Genetic Epidemiology track in the Department of Epidemiology and co-director of the MD-GEM training program.
Dr. Valle is the Henry J. Knott Professor and Director of the McKusick-Nathans Institute of Genetic Medicine with a co-primary appointment in the Department of Pediatrics and joint appointments in the Departments of Molecular Biology & Genetics and Ophthalmology at Johns Hopkins University School of Medicine. His research interests include human genetic disease with an emphasis on inborn errors of metabolism, inherited retinal degenerations, rare Mendelian disorders and identification and understanding of genetic factors that contribute increase susceptibility for neuropsychiatric diseases such as schizophrenia.
Dr. Valle is a member of the Institute of Medicine of the National Academy of Science, Association of American Physicians and a fellow of the American Association for the Advancement of Science. He is a past president of the American Society of Human Genetics and is the senior editor of The Metabolic and Molecular Bases of Inherited Disease. In 2003 Dr. Valle received the Colonel Harland Sanders Award for Lifetime Achievement in Genetics Research and Education from the March of Dimes Foundation. He is also director of the Predoctoral Training Program in Human Genetics and the Johns Hopkins Center for Inherited Disease Research as well as Co-Director of the Short Course in Medical and Experimental Mammalian Genetics at The Jackson Laboratory. He is co-director of the MD-GEM training program.
My work focuses on the genetic and epigenetic epidemiology of neuropsychiatric disorders, primarily in autism. Our group also studies the interplay between genes, environment and disease and the potential role for epigenetic marks as mediators or biomarkers. I also direct the Wendy Klag Center for Autism and Developmental Disabilities, which brings together students and faculty working in all public health aspects of developmental disabilities from surveillance to genetic and environmental causes, interventions, and public policy. For MD GEM, my group would be considered a "population science" lab, although I work closely with Andy Fienberg's epigenetics laboratory, where "lab science" opportunities exist for students. I am the Chair of the Department of Mental Health, and the founding and associate director of MD-GEM.
My research focuses on genomics of complex human disease, with the primary goal of identifying and characterizing genetics variants that modify risk for human disease. We are currently developing improved GWAS methodology, as well as exploring the integration of additional genome level data (RNA expression, DNA methylation, protein expression) to improve the power to identify genetic influences of disease. My lab is actively involved in researching autism, a childhood neuropsychiatric disorder, as well as cardiovascular genomics, with a focus on sudden cardiac death (SCD).
I have been working in genetics since 1990 and in psychiatric genetics since 1995. I am interested in understanding the genetic architecture of psychiatric disease with a special emphasis on translational potential.
To achieve this I am interested in new analytical methods that do not simplify but rather incorporate biological models, as well as in understanding the biological mechanisms underlying statistical correlations between DNA variation and disease.
Joan E. Bailey-Wilson
Dr. Bailey-Wilson develops new statistical methods and performs analyses that guide other genome scientists in their hunt for disease-associated genes. Trained in statistical genetics, she is interested in understanding the genetics of complex diseases and developing novel methodologies to disentangle the roles that genes and environment play in disease causation. Collaborating with other researchers, Dr. Bailey-Wilson studies a range of diseases, including lung cancer, prostate cancer, breast cancer, myopia and other eye diseases, autism and cleft lip and palate. She has been particularly interested in lung cancer since the early 1980s — a time when very few scientists believed there might be a genetic link to the condition. Today, significantly more data support the idea that there are susceptibility alleles for one or more unknown genes that dramatically increase certain smokers’ risk of developing lung cancer Dr. Bailey-Wilson's group have recently shown that family-based analysis methods can often outperform population-based studies of unrelated individuals when searching for rare genetic variants in DNA sequence data. She is using both linkage and association methods that take advantage of linkage disequilibrium data, HapMap data, and the sequence of the human genome to determine the location of genetic loci that increase risk for various diseases.
The goal of my research is to use the tools of statistical genetics to identify genetic factors contributing to risk of diseases that fall under the label of “complex” or “multifactorial”, where both genes and environmental risk factors contribute to the etiology. This work is part of the field of genetic epidemiology, and combines the tools of statistical genetics and the study designs of epidemiology. While I have worked on a wide variety of disease topics (pulmonary disease, diabetes, cancer), I have a long-standing interest in heart disease and birth defects. Recently, I have developed an interest in research methods to detect genes controlling risk to infectious and parasitic diseases.
The Aravinda Chakravarti laboratory uses computational and laboratory methods, perspectives and technologies to understand the distribution of genomic variation in human disease. Our primary studies are in two neurodevelopmental (autism, Hirschsprung disease) and two cardiac (hypertension, sudden cardiac death) systems to understand how genes specify phenotypes when inheritance is complex. Our goals are in gene discovery and understanding the molecular basis of human disease.
Debra JH Mathews, PhD, MA, is the Assistant Director for Science Programs for the Johns Hopkins Berman Institute of Bioethics. Trained in genetics, but now working in bioethics and policy, Dr. Mathews research focuses on the intersection of bench science with the broader society. Current projects include work in genetics, neuroscience, stem cell science and synthetic biology.
Ingo Ruczinski is an Associate Professor of Biostatistics. His professional expertise is in statistical genetics, genomics and proteomics. He has developed or co-developed several methodologies and open source software packages relevant for genomic array pre-processing, SNP association studies, family-based sequencing studies, studies of DNA copy number variants, and proteomic analyses. In addition to methods and software development, he collaborates on several large-scale genomic association and sequencing studies at the Johns Hopkins Schools of Public Health and Medicine.
I am a Professor of Medicine, Biostatistics, and Computer Science at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins School of Medicine, where I’m also Director of the Center for Computational Biology. My group’s research focuses on the development of new computational methods for analysis of DNA from the latest sequencing technologies. Over the years we have developed and applied software to many problems in gene finding, genome assembly, comparative genomics, evolutionary genomics, and sequencing technology itself. Our current work emphasizes analysis of DNA and RNA sequenced with next-generation technology. My blogs and other writing cover topics on the impact of science on society including the effects of pseudoscience, the problems of alternative medicine, the anti-vaccination movement, gene patents, and the influence of sports on higher education. See the links on my lab home page for my scientific publications, my opinion pieces, and other news.
Diane M. Becker
My interests are in the genetics of familial clustered early onset coronary disease, focused in incident events, coronary plaque, and on all attendant risk factors. I direct the GeneSTAR Research Program, a study of 4000 initially adult family members, followed for5-30 years for incident disease. All are fully genotyped with the Illumina 1 M, imputed to the 1000G, with whole genome sequencing. We have a strong interest in the transcriptome and proteome and combine strong biological models with genetic methods to elucidate vascular disease processes.
My current research focuses on the substrate for vascular disease and clinical coronary artery disease events, through genetic and transcriptomic studies of thrombosis in families with a history of early onset coronary disease , the GeneSTAR Study. My primary interest is platelet function and my work is both population-based and laboratory based. I am the PI of the Next Gen Study that cultures induced pluripotent stem cells, derived megakaryocytes and platelets and examines genes, transcripts, and proteins that account for variations in native platelet function.
Dr. Brody studies the inherited components of human disease. As head of the Molecular Pathogenesis Section, he is interested identifying and studying human genetic variation that lead to perturbations in normal metabolic pathways and cause disorders such as cancer and birth defects. His laboratory focuses on identifying genetic variants that alter an individual's risk of developing specific conditions. These variants fall roughly into two categories. Some are associated with a very high risk of developing a disease; variants of this type, such as those in known breast cancer-linked genes, are of great medical importance. The second category of variants is associated with more modest risk. The medical significance of variants in the latter group is not yet known, but their isolation and identification can lend insight into the mechanism of complex conditions.
A major focus of the Brody laboratory involves the study of folate and vitamin B12 metabolism. This "pathway" is central to DNA metabolism, DNA methylation, and approximately one hundred different metabolic steps that involve the transfer of a methyl group between molecules. Given its central role, genes involved in the folate and vitamin B12 pathway are likely to be involved in many disease states.
The prospect of gaining new insights into the etiology of complex diseases, such as cancers, is rapidly rising with the availability of new measurement technologies, increasing access to large electronic databases and establishment of new cohorts and biobanks. My group develops and applies quantitative methods for design and analysis of modern large scale genetic, genomic and other biomedical studies with the goals of identifying new risk factors and biomarkers, understanding disease mechanisms, developing models for disease risk prediction and evaluate risk-based strategies for disease prevention. I have led the design and analysis of a variety of genome-wide association studies (GWAS) that have identified new genetic loci for a variety of cancers; have characterized genetic architecture and gene-environment interactions in cancer etiology; and have led to better understanding of potential for genetic risk stratification for precision cancer prevention. As I had worked at NCI for 16 years, a lot of my subject areas of expertise involves cancers. But many of the concepts, methodologies and tools we have developed are equally applicable to other diseases.
Dr. Coresh is a professor in epidemiology with a join appointment in general internal medicine. He is currently the George W. Comstock Professor of Epidemiology, Medicine and Biostatistics at The Johns Hopkins University. He directs the George W. Comstock Center for Public Health Research and Prevention which includes 35 staff members who collect data for multiple studies and investigators across the university. He directs the Cardiovascular Epidemiology Program. Dr. Coresh was honored by the National Kidney Foundation with the Garabed Eknoyan Award for contributions to kidney disease and by American Heart Association with the Epidemiology and Prevention Mentoring Award.
Dr. Coresh has co-authored over 300 scientific articles and numerous book chapters cited by over 30,000 articles focusing on cardiovascular and kidney disease epidemiology. His contributions include leading investigations on the prevalence and consequences of chronic kidney disease which have been instrumental in national and international clinical practice guidelines related the definition and staging of chronic kidney disease. He also led efforts to calibrate assays, evaluate novel markers and guide reporting of estimated kidney function. Genetic epidemiology studies have shed light on kidney disease etiology, hypertension, lipid and uric acid metabolism. He leads the Chronic Kidney Disease Consortium of over 50 cohorts including over 2 Million participants.
Jennifer Deal is an epidemiologist with expertise in the epidemiology of physical and cognitive aging. Her research is centered on the elucidation of mechanisms related to homeostatic dysregulation and neurodegeneration that may contribute to cognitive aging in order to inform the development of strategies for the prevention of cognitive decline and dementia in older adults. Her recent work has focused on the effect of midlife vascular risk factors on cognitive change in older age, and in quantifying how HIV infection modifies risk of cardiovascular disease in a population-based cohort of men who have sex with men.
Our laboratory is interested in the development and homeostasis of the arterial wall. One goal is to understand genetic factors that predispose to aortic aneurysm, a condition accounting for 1-2 percent of deaths in industrialized countries. Our initial approach has been to study Marfan syndrome (MFS), a genetic disease that includes aortic aneurysm as part of the condition and that is caused by mutations in a single gene. It is anticipated that a comprehensive understanding of the cause, progression, and modulation of MFS will promote a greater understanding of vascular wall biology. Other vascular disorders currently being studied include: familial tetralogy of Fallot, cerebral cavernous malformation, a novel dominant syndrome of premature aging that prominently includes the cardiovascular system, the association of bicuspid aortic valve with aneurysm, and a novel and aggressive aneurysm phenotype called Loeys-Dietz syndrome. During our study of MFS, we recognized that a particular type of mutation is associated with very low levels of mutant RNA and tends to cause very mild forms of the disease. A second major interest of our laboratory is to understand the mechanism of nonsense-mediated mRNA decay; to evaluate its basic biologic purpose; and to assess its role as a potent modulator of disease severity in a wide variety of genetic disorders.
Our laboratory is studying the epigenetic basis of normal development and disease, including cancer, aging, and neuropsychiatric illness. Early work from our group involved the discovery of altered DNA methylation in cancer, as well as common epigenetic (methylation and imprinting) variants in the population that may be responsible for a significant population-attributable risk of cancer. Over the last few years, our laboratory has pioneered the field of epigenomics, i.e. epigenetics at a genome-scale level, founding the first NIH-supported NIH epigenome center in the country, and developing many novel tools for molecular and statistical analysis. Several discoveries and avenues of research have arisen from our epigenome center: CpG islands "shores," that drive many of the gene expression differences that distinguish normal tissues from each other and from cancer; the first map of the methylome in normal hematopoietic development, as well as in induced pluripotent stem cell (iPSC) reprogramming, discovering that iPSC retain an epigenetic memory of their cell of origin. We are now determining the epigenetic limitations of complete reprogramming to an ES-cell like state, and how to circumvent these limitations.
Gail Geller, Sc.D., M.H.S. is a Professor in the Department of Medicine at Johns Hopkins University with joint appointments in the Department of Pediatrics, the Institute of Genetic Medicine and the Bloomberg School of Public Health’s Departments of Health, Behavior & Society and Health Policy & Management. She is a core faculty member in the Berman Institute of Bioethics (BI) and Deputy Director of the BI’s Hecht-Levi Post-Doctoral Fellowship Program in Bioethics. She also oversees the “social, behavioral and ethical” Horizontal Strands in the undergraduate medical curriculum. Gail received her B.S. in human development & family studies from Cornell University and her doctorate from the Johns Hopkins School of Public Health with concentrations in bioethics and social & behavioral science.
Most of Dr. Geller’s research has focused on the ethical and psychosocial issues in genetics, particularly the informed consent process for genetic testing in the adult and pediatric settings. She was a member of two NIH Consortia: (1) Cancer Genetics Studies and (2) Informed Consent, and co-chaired the Task Force on Informed Consent for Cancer Susceptibility Testing. Whereas most informed consent research centers on patients, Dr. Geller’s focus is on practitioners, with an eye toward improving human values training in professional education. She was a founding faculty member in the Johns Hopkins/NHGRI Genetic Counseling Training Program, developed and taught a course on Ethical & Sociocultural Issues in Genetic & Reproductive Technologies, and co-directed the ethics component of a Fogarty International Center grant to train Chinese scientists in genetics. The unifying theme underlying all of her work is provider-patient communication and decision-making in the face of uncertainty or cultural differences.
Dr. Geller has served on the IOM Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials, the Board of Directors of the American Society for Bioethics & Humanities, the National Advisory Board of the Center for Genetics Research Ethics and Law (CGREAL) at Case Western Reserve University, one of the IRBs in the School of Medicine, the Ethics Working Group of the National Children’s Study, the Informed Consent Working Group of the Secretary’s Advisory Committee on Genetic Testing (SACGT), the Presidential Advisory Committee on Human Radiation Experiments, and the CDC’s Program in Public Health Genetics. She is a Fellow of the Hastings Center.
Loyal A. Goff
The Goff lab is exploring the establishment of specific neuronal cell types and identifying the molecular determinants responsible for proper brain development. Using novel experimental approaches for the enrichment and purification of specific neuronal cell types and recent technological advances in single-cell RNA sequencing, we can discover and explore the cellular factors that contribute to neuronal cell fate decisions during mammalian brain development. We use these approaches to establish high-resolution time courses of neuronal differentiation and maturation. Much of our work is focused on the 'noncoding genome' and in particular, a specific class of molecules known as long noncoding RNAs (lncRNAs). LncRNAs represent a recently-formalized class of RNA molecules with established roles in differentiation, cell fate specification, apoptosis, and various disorders. The flexibility of RNA as a functional substrate, the observed tissue and cell type specificity of these molecules, and their abundance and exquisite spatio-temporal regulation in the developing brain suggest that these genes are uniquely poised to contribute to the observed heterogeneity of the mammalian brain. My group is interested in the mechanisms by which lncRNAs regulate target gene expression in the context of neuronal differentiation, their coordinate interactions with regulatory protein complexes, their association with neurodevelopmental disorders, and their functional roles in establishment and maintenance of specific neuronal phenotypes.
After completing medical school at Georgetown University, and residency in Pediatrics, an MPH from the Bloomberg School of Public Health, followed by fellowship in clinical and biochemical genetics at Johns Hopkins Hospital, Ada Hamosh, MD, MPH, joined the faculty of the McKusick-Nathans Institute of Genetic Medicine (IGM)of the Johns Hopkins University in 1992. She became the Dr. Frank V. Sutland Chair of Pediatric Genetics there in 2007. Her lifelong interest is in genotype-phenotype correlations and the molecular basis of mendelian disorders, beginning with cystic fibrosis, but branching to becoming Scientific Director of Online Mendelian Inheritance in Man (OMIM®) since 2002. She is clinical director of the IGM, and has brought a primary care model to genetics practice. In addition, over the past two years, she has developed PhenoDB, a new web-based tool for the collection, storage and analysis of phenotypic and genomic information, developed for the NHGRI funded Centers for Mendelian Genomics, but with broad applicability to any clinical or research lab pursuing whole exome/genome sequencing technologies. Recently, she an colleagues have launched GeneMatcher, a web-based tool to enable now gene and eventual phenotype based matches of individuals with unsolved exomes/genomes. Her dream is to integrate standardized family history, phenotyping and genomic data to enable point of care support to diagnose and manage genetic disease.
Dr. Hansen applies statistical methodology to the analysis of high-throughput experiments in biology. He has made contributions to epigenetics, transcriptomics and bias detection/removal in next-generation sequencing, and is also interested in metagenomics. His methodological work is typically released through the open source Bioconductor project. He works closely with lab scientists to analyze their high-throughput data.
Julie Hoover-Fong is an Associate Professor and Director of the Greenberg Center for Skeletal Dysplasias in the McKusick-Nathans Institute of Genetic Medicine at The Johns Hopkins University. She oversees the clinical operations and research ventures for the patient population served by the Greenberg Center, and serves on the Medical Advisory Board of the Little People of America. As a clinical geneticist and pediatrician, Dr. Hoover-Fong works to establish and improve diagnostic and treatment guidelines for comprehensive care of patients with all types of bone conditions, congenital anomalies, and complex chromosomal abnormalities. In her academic environment, Dr. Hoover-Fong also mentors and teaches medical students, residents and trainees in the Medical Genetics Postdoctoral Training Program at The Johns Hopkins University. As an active clinical researcher, Dr. Hoover-Fong is the Principal Investigator of several multi-center clinical trials for patients with a variety of genetic conditions including Down Syndrome, achondroplasia and Morquio syndrome. She is also a co-investigator on the ELSI and Phenotype Review Committees for a $16M NIH-sponsored grant to identify the genetic cause of Mendelian conditions via whole genome sequencing.
Our research is aimed at understanding the molecular genetic events responsible for initiation and progression of prostate cancer. We have taken advantage of the large clinical resource available in the Dept. of Urology at Johns Hopkins which specializes in treatment of prostate cancer to carry out studies of both sporadic and inherited forms of this common disease. To analyze inherited forms of prostate cancer, and to hopefully understand the molecular events responsible for the initiation of both inherited and sporadic prostate cancer, we have carried out GWAS studies to identify common prostate cancer risk SNPs in case control populations and linkage studies and candidate gene analyses identify more rare, high penetrance alleles in prostate cancer families. This latter approach has resulted in the identification of HOXB13 as the first prostate cancer specific susceptibility gene, and establishes homeobox genes as key determinants in prostate carcinogenesis. We anticipate that understanding the molecular genetics of prostate cancer will lead to better diagnostic and prognostic markers for prostate cancer (as a critical issue in this disease is the ability to accurately predict the aggressiveness of a given prostate cancer), and to identify new approaches for novel preventive and therapeutic strategies.
Dr. Jacobson's research interests include epidemiologic methods in cohort studies, HIV, effects of therapy on HIV, and infectious causes of cancer, particularly the human herpesvirus-8 (HHV-8) and Kaposi's sarcoma, and the effects of HIV, therapy and age. As the Principal Investigator of the Data and Analytical Coordinating Center for the Multicenter AIDS Cohort Study (MACS), Dr. Jacobson provides epidemiologic expertise in the conduct of the study, with particular attention to the standardization of study protocols and the design of nested studies. Dr. Jacobson chairs the MACS Data Working Group and represents CAMACS in the Malignancy Group of the Clinical Working Group and participates in the MACS Executive Committee. In addition, she provides epidemiologic, methodological and analytic support to the investigators of the Women's Interagency HIV Study (WIHS), and to those involved in the mulicenter cohort study of kidney disease in children (CKID). Dr. Jacobson analyzed the timing of infections with HIV-1 and HHV-8 for progression to Kaposi's sarcoma [J Infect Dis 2000;181:1940-1949]. As an extension of her interest in malignacies and research design, Dr. Jacobson collaborates with investigators from the Department of Environmental Health Sciences in investigations of molecular biomarkers for environmental carcinogens.
Dr. Keet is an Assistant Professor of Pediatrics in the Division of Pediatric Allergy and Immunology at the Johns Hopkins School of Medicine. She completed her medical training at the University of California, San Francisco, her residency in Pediatrics and fellowship in Pediatric Allergy at the Johns Hopkins Children Center, and her PhD in Epidemiology at the Johns Hopkins Bloomberg School of Public Health.
Her research focuses on the epidemiology and treatment of children with allergic diseases, particularly on the environmental and genetic determinants of food allergy and asthma. This complements her clinical work in Pediatric Allergy. She is supported by a K23 from the NIAID, and is PI of two R21s, one from the NIAID and one from the NICHD. She has active collaborations with researchers in Biostatistics, International Health and Epidemiology.
Dr. Klein has studied the genetic epidemiology of pancreatic cancer for over 14 years. She is Director of the National Familial Pancreas Tumor Registry, the largest registry of familial pancreatic cancer in the world. Currently over 4,700 families have enrolled in this registry including over 1,500 with familial pancreatic cancer (defined as a kindred with at least a pair of first-degree relatives with pancreatic cancer). Her long-term interests include understanding the genetic and environmental risk factors that cause pancreatic cancer, and developing risk prediction models for this disease. Dr. Klein’s work has laid the foundation for much of our understanding of inherited basis of pancreatic cancer including the discovery that mutations in the PALB2 and ATM genes cause familial pancreatic cancer. Her discovery of PALB2 mutations in familial pancreatic cancer kindreds was the first study to demonstrate that whole exome sequencing can be used to identify the cause of a hereditary disease. She is also the PI of an NCI supported GWAS of pancreatic cancer.
My research is mainly focused on integrating genome-wide genotyping, genome-scale epigenetic, and prenatal environmental exposure data, at a population level, to understand how each factor alone and in combination influences risk for autism. This work is carried out through collaborations with the Study to Explore Early Development (SEED) and Early Autism Risk Longitudinal Investigation (EARLI) studies. In addition, I am interested in developing the emerging field of epigenetic epidemiology, more generally. As a member of the JHU Center of Excellence in Genomic Science, I work on several projects to develop and apply new methods for investigating the epigenetic basis common diseases. This work is highly interdisciplinary and therefore I am involved in both population-based analyses as well as laboratory experiments.
Jeff Leek is an Assistant Professor of Biostatistics at the Johns Hopkins Bloomberg School of Public Health and co-editor of the Simply Statistics Blog. He received his Ph.D. in Biostatistics from the University of Washington and is recognized for his contributions to genomic data analysis and statistical methods for personalized medicine. His data analyses have helped us understand the molecular mechanisms behind brain development, stem cell self-renewal, and the immune response to major blunt force trauma. His work has appeared in the top scientific and medical journals Nature, Proceedings of the National Academy of Sciences, Genome Biology, and PLoS Medicine. He is also the instructor of the course Data Analysis for Coursera that had over 100,000 students enrolled.
Justin Lessler is an Assistant Professor in the department of Epidemiology researching the dynamics and control of infectious disease. Justin works on the development and application of statistics, dynamic models and novel study designs to better understand and control infectious disease. He is particularly interested in merging statistical and mechanistic models of infectious disease transmission with phylogenetic information (i.e., phylodynamics) to better understand how pathogens are transmitted and impact human health; and is working to apply these methods to understand HIV transmission in Rakai Uganda.
Dr. Maher is an applied statistical geneticist. His primary interest is the contribution of the genome to psychiatric and behavioral disorders. A major focus of his work is in the genetics of drug use disorders.
Dr. Rasika Mathias, ScD, is an Associate Professor of Medicine in the Division of Allergy and Clinical Immunology. She is a formally trained Genetic Epidemiologist with a particular emphasis on the genetics of quantitative traits underlying disease phenotypes in the context of family-based designs and health disparities. Dr. Mathias is currently building a program on Next Generation Sequencing approaches to dissecting the genetics of complex diseases with an emphasis on populations of African ancestry. She focuses on three specific areas of research (Asthma, Cardiovascular Disease and Poly-Unsaturated Fatty Acid Metabolism) all tied together by the comment thread of sequencing as a tool to investigate genetic determinants of traits that underlie complex disease in the context of health disparities.
Dr. Mehta's research focuses on the epidemiology, clinical course and treatment of HIV and hepatitis C among hard to reach populations,including injection drug users and men who have sex with men. She is particularly interested in improving access to care and treatment of HCV and HIV for marginalized groups. She is the co-principal investigator of the AIDS Linked to the IntraVenous Experience (ALIVE) study, a long-standing cohort study of current and former injection drug users in Baltimore, MD and a co-investigator on several projects focused on HIV/HCV co-infection in Baltimore. She is also the principal investigator of two studies in India- the first focuses on the prevalence and consequences of HIV and HCV associated-liver disease in India. The second is a cluster randomized trial to test the effectiveness of integrated care clinics on improving HIV testing and treatment outcomes among marginalized groups.
Elaine A. Ostrander
Our lab at NIH works in both human and canine genetics. We are interested in the genetics of complex traits, including diseases such as cancer. Using both high-risk families and a population-based, case control study we are mapping the genetic basis of prostate cancer susceptibility in men, particularly aggressive forms of the disease, and studying tumor evolution. Our canine work takes advantage of dog breed structure to identify genes important in bladder, stomach, and soft tissue cancers. We also aim to understand the genetic basis of breed-specific morphologic features such as canine body size, leg length and skull shape, thus providing a mechanistic understanding of growth regulation.
Elizabeth A. Platz
Dr. Elizabeth A. Platz is a Professor and Deputy Chair of the Department of Epidemiology at the Johns Hopkins Bloomberg School of Public Health. She directs the training program in Cancer Epidemiology, Prevention, and Control, which is supported by an NCI T32. She is also appointed in the Department of Urology and the James Buchanan Brady Urological Institute at the Johns Hopkins School of Medicine. She is the Martin D. Abeloff, MD Scholar in Cancer Prevention and the Co-Leader of the Cancer Prevention & Control Program at the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins. Dr. Platz is a leader in the field of cancer epidemiology and is recognized for her leadership of multidisciplinary prostate cancer research teams. A major focus of her work is the use of molecular and genetic epidemiology approaches to understand the mechanisms underlying prostate incidence and progression. She conducts her work with an eye toward translation of findings into prevention and treatment strategies. She is at the forefront of epidemiologic research on the role of inflammation, a target for prevention, in the development of prostate cancer, and on telomere length as a prognostic marker for poor outcome after treatment for prostate cancer.
Chronic viral hepatitis (due to HBV and HCV) is a major cause of liver disease worldwide, and an increasing cause of death in persons living with HIV/AIDS. Our laboratory studies are aimed at better defining the host-pathogen interactions in these infections, with particular focus on humoral and cellular immune responses, viral evasion, inflammation, fibrosis progression, and drug resistance. We are engaged in synthetic biology approaches to rational vaccine development and understanding the limits on the extraordinary genetic variability of HCV.
I am an Assistant Professor of Epidemiology in the Johns Hopkins Bloomberg School of Public Health. My research goal is to apply my statistical expertise in developing novel methods and software/tools that address current challenges in the analysis of massive human genetics data. Currently, I am working on modeling association of genetic variants (common or rare) with one or more disease-related traits from case-control/cohort/trio studies. Other research interests include gene-environment interactions, meta-analysis (specially where studies may have overlapping samples) and design considerations of studies with external samples. Although I have primarily worked on lipids and type II diabetes traits from population-based studies, the methods/tools I have worked on can be applied to other disease traits as well.
I am interested in the development of statistical methods for detecting structural variants from high-throughput platforms that include hybridization-based genotyping arrays and whole-genome or whole-exome sequencing technologies. Areas of application include somatic copy number variants and rearrangements in the genomes of cancer patients, and the detection of heritable copy number variants in the germline of subjects with complex diseases such as gout.
My current interests are focused on bringing technologies to Hopkins investigators that enable them to probe the structure and function of the human genome more effectively and economically. I have helped establish DNA sequencing, synthesis, and microsatellite genotyping activities both at the medical school and at the Center for Inherited Disease Research. Currently, we are providing high throughput genotyping for the NHLBI and CIDR. Through the CCDD, I am involved in a study of isolated cleft lip and palate and isolated craniosynostosis. That project uses genotyping arrays to look for genetic linkage or association between SNPs in over 200 candidates genes. I am also interested in the problem of gene annotation so that functional information can be captured and presented in a way that will help with the discovery of the underlying bases of common disease. I am the Directors of the Genetics Resources Core Facility.
Dr. Taub has expertise in genomics and statistical genetics, having developed analysis methods and software for gene expression data, genotyping data and DNA methylation data. She has extensive knowledge of a variety of high-throughput technologies, including traditional genotyping arrays, as well as more novel methylation arrays, and high-throughput sequencing data. In statistical genetics, she has focused on methods for detecting association and linkage in related individuals and on biases in high-throughput sequencing technologies and their effects on downstream analyses. Her current collaborative projects include applications to schizophrenia, oral cleft disorders, asthma and heart disease.
I am interested in the genetic basis for differences in the outcomes of infectious disease. Most of our work has focused on hepatitis C virus, which either causes chronic infection that can lead to cirrhosis or liver cancer and has surpassed HIV as a cause of death in the USA or it can spontaneously resolve. There is a strong genetic basis for this phenotype and we have begun to understand it with genome wide association (Duggal Ann Intern Med 2013) and candidate gene studies (Thomas Nature 2009). Computational efforts are led by Priya Duggal in close collaboration with Chloe Thio.
Kala Visvanathan is an Associate Professor in the Department of Epidemiology at Johns Hopkins Bloomberg School of Public Health with a joint appointment in the Department of Medical Oncology at Johns Hopkins School of Medicine. She is Director of the Clinical Cancer Genetics and Prevention Service at Johns Hopkins Sidney Kimmel Comprehensive Cancer Center (SKCCC).
Her research is focused on reducing the incidence and mortality from breast and ovarian cancer. Trained as a medical oncologist and cancer epidemiologist, a large part of her research is multidisciplinary and focused on translating results from the laboratory to populations, to identify at risk groups, preventable targets and to evaluate agents that have the potential to impact the natural history of breast and ovarian cancer. Specific exposures of interest include genetic and epigenetic changes, DNA damage/repair, hormonal exposures, inflammation, obesity and oxidative damage. Dr. Visvanathan is also interested in evaluating agents that reduce the risk of breast and ovarian cancer. She conducts both observational studies and clinical prevention/early detection studies in the general population and high-risk populations (i.e. family history of breast and ovarian cancer).Dr. Visvanathan also teaches in the Department of Epidemiology and School of Medicine and serves as an advisor to doctoral and masters students as well as clinical fellows post docs and junior faculty. She recently co-chaired the American Society of Clinical Oncology national guideline on breast cancer risk reduction.
Jeremy Walston is the Raymond and Anna Lublin Professor of Medicine in the Division of Geriatric Medicine and Gerontology and a core faculty member in the Center of Aging and Health. He received his MD from the University of Cincinnati School of Medicine, and completed a General Internal Medicine residency program at the Johns Hopkins University. During is Geriatrics Fellowship at Johns Hopkins between 1991 and 1993, he trained in the diabetes and genetics laboratories of Drs. Alan Shuldiner and Jesse Roth, where he learned to utilize basic molecular and genetic approaches to study complex disease. During that period, he helped to identify one of the first gene variants known to contribute to both obesity and type 2 diabetes mellitus. Since that time, he has worked with a multidisciplinary team of investigators and trainees focused on aging and frailty to develop an outstanding clinical translational research program. This program focuses on the identification of age-related molecular and physiological changes and genetic variants that contributes to frailty and chronic disease states, and the translation of these findings into clinically relevant interventions. As part of this ongoing effort, he helped to develop the most commonly utilized definition of frailty, and used this phenotype to identify inflammatory, endocrinological, and renin angiotensin system related pathways that influence frailty and late life decline. He has authored more than 120 peer-reviewed publications, including publications in the New England Journal of Medicine, the Proceedings of the National Academy of Science, and the Journal of Gerontology. He is presently the Principal Investigator of the JHU Claude D. Pepper Older Americans Center (OAIC), a multidisciplinary NIA funded program project that focuses on frailty research and the training of junior faculty interested in frailty and aging research. He is also the co-director of the Biology of Healthy Aging Program, and the Deputy Director of the Division of Geriatric Medicine and Gerontology at Johns Hopkins. Dr. Walston has won numerous award and prizes for his research, including the American Geriatrics Society New Investigator Award, a Brookdale National Leadership Fellowship, and a Paul Beeson Physician Faculty Scholars. He was named the Raymond and Anna Lublin Professor of Geriatric Medicine and Gerontology in 2010.
Dr. Xiaobin Wang is the Zanvyl Krieger Professor in Child Health and director of the Center on the Early Life Origins of Disease in the Department of Population, Family and Reproductive Health, John Hopkins University Bloomberg School of Public Health. Dr. Wang is a board-certified pediatrician and molecular epidemiologist. Her work unites laboratory, clinical, and epidemiological studies in diverse populations across developmental stages, and brings together investigators and health professionals from multiple disciplines. In the past 12 years, she has served as the principal investigator (PI) of multiple large-scale population and clinical studies funded by the National Institute of Health, with a particular focus on environmental factors, nutritional biomarkers, genetic variants, epigenetic alterations, and their interactions in complex human diseases including reproductive and pregnancy outcomes, food allergy, childhood obesity, and precursors of metabolic syndrome and other adult diseases. She has authored and co-authored more than 140 peer-reviewed publications, including articles in the NEJM, JAMA, and Lancet. The Center is conducting both GWAS and epigenomic studies in two cohorts, the Boston Birth Cohort and Chicago Family Cohort.
Dr. Wilson uses approaches from biology, medical genetics, statistics, mathematics, and computer science to develop new methods for performing statistical genetic analysis on quantitative traits, testing the statistical properties of these methods with computer simulation, and applying these methods to ongoing collaborative research. By analyzing the patterns of hundreds of thousands to millions of genetic markers or sequence variants, Dr. Wilson's group identifies chromosomal regions where the genes responsible for the variation of these quantitative traits most likely reside. Recent theoretical efforts focus on the development of linear regression methods that use multiple and/or stepwise regression in regions that are bounded by recombination hotspots (areas of increased recombination) over the entire genome. This "tiled regression" approach is being used to test for trait-marker associations in genome-wide association studies and in sequence data. It allows for the inclusion of genetic markers that are physically very close together (in linkage disequilibrium). With this approach, it becomes practical to analyze millions of markers and their significant gene x gene interaction terms.
I am an Assistant Professor of Genetic Epidemiology and Ophthalmology at the Johns Hopkins Bloomberg School of Public Health and the Wilmer Eye Institute. I am also co-director of the Eye and Vision Genomics Training Program, a National Eye Institute funded initiative awarded to the departments of Epidemiology and Biostatistics at JHSPH.
My main research interests are in the genetic and genomic characterization of eye disease and vision disorders, as well as in the ocular (and visual) manifestations of systemic disease and neurological impairment. My current primary research focuses on large-scale genetic association and sequencing studies of human refractive error (i.e., nearsightedness and farsightedness), glaucoma, and related traits. My analyses incorporate genome-level data, measures of environmental exposures, and biological information in order to formulate more comprehensive theories of normal and abnormal visual development, as well as disease pathophysiology.
I have extensive clinical practice and field experience, having worked as a Doctor of Optometry in various settings. I have practiced in urban areas as well as in remote regions of Northern Canada and Alaska, where I served primarily Native American peoples. I also directed several humanitarian eye care missions in Central and South America, and in Haiti. These experiences have fostered in me a profound interest in health outcome disparities among populations, whether they be due to genetic predispositions or, more often, to differing environments and socioeconomic contexts. Hence, I actively participate in international collaborations of genomic studies in an attempt to unravel the multiple risk factors associated with disease predisposition.
I am a psychiatric epidemiologist with expertise in studying the genetic epidemiology and pharmacoepidemiology of psychiatric disorders. I co-lead the Mood Disorders Research Group in the Department of Psychiatry and Behavioral Sciences in the Johns Hopkins School of Medicine, and I am Director of the Psychiatric Epidemiology Training program in the Department of Mental Health in the Johns Hopkins Bloomberg School of Public Health. In my genetic epidemiology work, I utilize statistical genetics and bioinformatics tools to study the genetic basis of complex psychiatric disorders. I lead a computational laboratory that collaborates on family and population based genetic studies and has developed and implemented bioinformatics and analytic pipelines for managing, analyzing and visualizing high-throughput genomic data, including from genome-wide linkage, association, expression, epigenetic and next-generation sequencing studies. In my pharmacoepidemiology work, I carry out observational and randomized studies of novel pharmacological strategies for the treatment and prevention of mood disorders and dementia. Bringing together my interests in genetic and pharmacoepidemiology, I also study the pharmacogenetic basis of safety and efficacy responses to psychotropic medications.