Stephanie J. London | |
---|---|
Alma mater | Harvard University |
Scientific career | |
Fields | Epidemiology, environmental health |
Institutions | Keck School of Medicine of USC National Institute of Environmental Health Sciences |
Stephanie J. London is an American epidemiologist and physician-scientist specializing in environmental health, respiratory diseases, and genetic susceptibility. She is the deputy chief of the epidemiology branch at the National Institute of Environmental Health Sciences.
London earned a B.A. from Harvard College, an M.D. from Harvard Medical School, an M.P.H in Occupational Health and Dr.P.H. in Epidemiology from the Harvard T.H. Chan School of Public Health. [1] Her 1989 dissertation was titled Risk Factors for Breast Cancer in the Nurses' Health Study. [2] She completed a residency in Internal Medicine at the Massachusetts General Hospital. London is licensed in California, and is Board Certified in both Internal Medicine and in Preventive Medicine, with Specialty in Occupational and Environmental Medicine. [3]
London was an assistant professor in the department of preventive medicine at the Keck School of Medicine of USC before coming to National Institute of Environmental Health Sciences (NIEHS) in 1995. She is currently (2021) a principal investigator at NIEHS with a dual appointment in the epidemiology branch and laboratory of respiratory biology. [3] Dale Sandler is the Chief and she is the deputy chief of the epidemiology branch at the National Institute of Environmental Health Sciences. [4]
The genetics, environment & respiratory disease group, headed by London, focuses on environmental causes, genetic susceptibility and interactions in relation to nonmalignant respiratory conditions. [3]
London began work on genetic susceptibility to respiratory disease in 1990 with a population-based case-control study of lung cancer in African-Americans and Caucasians in Los Angeles County. With collaborators on a cohort of Shanghai men she published the first example of gene-diet interaction based on a dietary biomarker; isothiocyanates, a chemopreventive substance in Brassica vegetables, were protective for lung cancer only among individuals with genetically reduced ability to eliminate these compounds. [5] [1]
London now focuses on nonmalignant respiratory outcomes. In the early 1990s, she was part of the small group of investigators at the University of Southern California that established the landmark Children's Health Study, a school-based cohort study of health effects of air pollution. After coming to NIEHS in 1995, she developed a case-parent triad study of genetics of childhood asthma in Mexico City (MCCAS). [1] Beginning in 2008, London’s genetic work shifted to genome-wide approaches. She published one of the first genome wide association studies (GWAS) of asthma in MCCAS. [6] [1] She has integrated MCCAS into various consortia to better understand the genetic architecture of asthma. [1]
London collaborates extensively with the Atherosclerosis Risk in Communities Study. Through this collaboration, she established the Pulmonary Working Group within the CHARGE Consortium to study pulmonary function and related phenotypes in adults using GWAS meta-analysis. This work has led to the discovery of numerous novel loci related to pulmonary function and COPD. [1] Under London's direction, the CHARGE Pulmonary Group recently identified over 50 new lung function loci in a large multi-ethnic meta-analysis. [7] [1] London led the first study of any pulmonary phenotype to include interaction with an environmental factor (smoking) using genome-wide data. London has explored other omic platforms in relation to this phenotype. [8] [1] She led the first meta-analysis of multi-ethnic population based studies examining metabolomics in relation to pulmonary function. [9] [1] Her group is leading a meta-analysis of Epigenome Wide Association Studies of pulmonary function within the CHARGE consortium. [1]
London collaborates with Norwegian investigators to study early life factors in relation to asthma and allergies within the Norwegian Mother and Child (MoBa) pregnancy cohort. London received funding for a seven-year questionnaire in MoBa to identify asthma and allergies at this age when are more reliably ascertained. To extend her asthma findings in MoBa London developed a sub-study of genome wide methylation in newborns using the Illumina 450K platform. Her group published the first study of the effects of any in utero exposure using this platform. This study, now widely replicated, identified numerous novel loci differentially methylated in response to maternal smoking in pregnancy. Motivated by this finding, and as proof of principle for the use of methylation signatures in newborns to identify effects of other in utero exposures and to study potential epigenetic underpinnings of childhood health and disease, London formed an international consortium of birth and childhood cohorts, the Pregnancy and Childhood Epigenetics Consortium (PACE). The first PACE publication combined data on maternal smoking and DNA methylation in offspring from 16 cohorts identifying 6,000 differentially methylated CpGs in newborns, half of them novel and many persisting into childhood. [1]
London also led a larger meta-analysis of personal smoking in adults and methylation in the CHARGE consortium. In a recent publication her group compared methylation signatures from these two meta-analyses and identified genes uniquely differentially methylated in relation to the newborn exposure. Subsequent PACE publications have examined newborn methylation in relation to maternal body mass index during pregnancy, maternal alcohol intake, birthweight, and prenatal air pollution (NO2 and particulate matter). A recent PACE publication led by London’s group identified numerous loci differentially methylated at birth and childhood in relation to childhood asthma. London co-led a large meta-analysis identifying the extensive newborn methylation signature of gestational age at birth. There are numerous PACE projects underway and the consortium continues to grow. [1]
Psychiatric epidemiology is a field which studies the causes (etiology) of mental disorders in society, as well as conceptualization and prevalence of mental illness. It is a subfield of the more general epidemiology. It has roots in sociological studies of the early 20th century. However, while sociological exposures are still widely studied in psychiatric epidemiology, the field has since expanded to the study of a wide area of environmental risk factors, such as major life events, as well as genetic exposures. Increasingly neuroscientific techniques like MRI are used to explore the mechanisms behind how exposures to risk factors may impact psychological problems and explore the neuroanatomical substrate underlying psychiatric disorders.
Public health genomics is the use of genomics information to benefit public health. This is visualized as more effective preventive care and disease treatments with better specificity, tailored to the genetic makeup of each patient. According to the Centers for Disease Control and Prevention (U.S.), Public Health genomics is an emerging field of study that assesses the impact of genes and their interaction with behavior, diet and the environment on the population's health.
Surfactant protein A1(SP-A1), also known as Pulmonary surfactant-associated protein A1(PSP-A) is a protein that in humans is encoded by the SFTPA1 gene.
The Study of Health in Pomerania (SHIP) is a population-based epidemiological study consisting of two independent cohorts. The SHIP investigates common risk factors, subclinical disorders and manifest diseases with highly innovative non-invasive methods in the high-risk population of northeast Germany. The study is not interested in one specific disease. The SHIP study´s main aims include the investigation of health in all its aspects and complexity involving the collection and assessment of data relevant to the prevalence and incidence of common, population-relevant diseases and their risk factors.
A gene is said to be polymorphic if more than one allele occupies that gene's locus within a population. In addition to having more than one allele at a specific locus, each allele must also occur in the population at a rate of at least 1% to generally be considered polymorphic.
GWAS in allergy is a study of a meta-analysis of genome-wide association study in which allergy is associated with different susceptibility loci. The three allergic phenotypes studied were to cat, dust mites and pollen, for which found patients presenting allergic symptoms.
Mitali Mukerji is a Professor and Head of the Department of Bioscience and Bioengineering, IIT Jodhpur. She was formerly a Chief Scientist at the CSIR Institute of Genomics and Integrative Biology with notable achievement in the field of human genomics and personalized medicine. She is best known for initiating the field of "Ayurgenomics" in partnership with her colleague Dr. Bhavana Prasher under the mentorship of Prof. Samir K. Brahmachari. Ayurgenomics is an innovative study, blending the principles of Ayurveda- the traditional Indian system of medicine- with genomics. Mukerji is also a major contributor in the Indian Genome Variation Consortium, a comprehensive database that is producing "the first genetic landscape of the Indian population", and has been an author in many publications that use IGV databases to study population genomics. Mukerji has done extensive research on hereditary ataxias, and is involved in many other projects related to tracking disease origins and mutational histories. She is the recipient of the prestigious Shanti Swarup Bhatnagar Award in 2010 for her contribution in the field of Medical Sciences.
HHIP-like protein 1 (HHIPL1), also known as HHIP2, is a protein that in humans is encoded by the HHIPL1 gene on chromosome 14. It is not significantly expressed in many tissues and cell types, though HHIPL1 mRNA has been detected in trabecular bone cells. Little is known about the precise biological function of HHIPL1, but the protein has been linked to adenomas. The HHIPL1 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.
Albert Hofman is a Dutch clinical epidemiologist. He is currently the Stephen B. Kay Family Professor of Public Health and the chair of the Department of Epidemiology at the Harvard T.H. Chan School of Public Health.
An epigenome-wide association study (EWAS) is an examination of a genome-wide set of quantifiable epigenetic marks, such as DNA methylation, in different individuals to derive associations between epigenetic variation and a particular identifiable phenotype/trait. When patterns change such as DNA methylation at specific loci, discriminating the phenotypically affected cases from control individuals, this is considered an indication that epigenetic perturbation has taken place that is associated, causally or consequentially, with the phenotype.
Carol Elspeth Goodeve Brayne CBE is a British academic and the Professor of Public Health Medicine at the University of Cambridge and Chair of Wellcome's Population and Public Health Review Group. She is Director of the Cambridge Institute of Public Health. She is a special advisor for the Royal College of Physicians and a senior investigator at the National Institute for Health Research (NIHR).
Cohorts for Heart and Aging Research in Genomic Epidemiology, abbreviated CHARGE, is a consortium formed to facilitate meta-analyses of genome-wide association studies of aging and cardiovascular traits, and the replication of genotype–phenotype associations identified in such studies. CHARGE was initially launched in 2008 as a voluntary collaboration between five prospective cohort studies: the Age, Gene/Environment Susceptibility-Reykjavik Study (AGES) in Iceland, the Atherosclerosis Risk in Communities Study, the Cardiovascular Health Study, and the Framingham Heart Study in the United States, and the Rotterdam Study in the Netherlands. Other cohort studies have joined the consortium since its founding, including the Multi-Ethnic Study of Atherosclerosis and the Coronary Artery Risk Development in Young Adults Study. The organization of the consortium consists of a Research Steering Committee, an Analysis Committee, a Genotyping Committee, and roughly 35 phenotype-specific working groups.
Joan Ellen Bailey-Wilson is an American statistical geneticist. She is a senior investigator and co-chief of the Computational and Statistical Genomic Branch of the National Human Genome Research Institute.
The Busselton Health Study is a long-term, on-going health cohort study of residents of the Western Australian city of Busselton. Over 20,000 Busselton residents have participated in surveys concerning such health topics as cardiovascular disease, pulmonary function, diabetes, and cancer, resulting in over 400 publications. The program was initiated by Kevin Cullen, a local general practitioner, and is administered by the Busselton Population Medical Research Institute, which was established in 2000 as the Busselton Population Medical Research Foundation, and the School of Population and Global Health, University of Western Australia. Data from the study was used in a 1996 paper in Nature showing some of the first genetic links to asthma, along with a 1999 paper in the New England Journal of Medicine that was the first to describe the impact of the newly discovered HFE gene causing HFE hereditary haemochromatosis on a population with normal rates of symptoms.
Tommaso A. Dragani is an Italian genetic epidemiologist whose research is focused on understanding the genetic control of complex phenotypes.
Anna Louise Hansell is a British physician who is Professor of Environmental Epidemiology and Director of the Centre for Environmental Health and Sustainability at the University of Leicester. During the COVID-19 pandemic, Hansell studied the relationship between pollution and COVID-19.
Montserrat García-Closas, M.D., M.P.H., Dr.P.H., is a Spanish researcher and academic who is best known for her works on identifying cancer biomarkers and genetic susceptibility to cancer. Dr. García-Closas serves as the deputy director of the Division of Cancer Epidemiology & Genetics (DCEG) of the National Cancer Institute, as well as the Acting Chief of the Integrative Tumor Epidemiology Branch of the DCEG.
Deborah (Debbie) Jarvis is a British professor of public health at the National Heart and Lung Institute, Imperial College London. She is an authority on the epidemiology of asthma in adults.
Andre Franke, born on 16 October 1978, is a geneticist, academic, and university professor. He is a Full W3 Professor of Molecular Medicine at the Christian-Albrechts-University of Kiel, and a managing director at the Institute of Clinical Molecular Biology.
Padmaja (PJ) Subbarao is a Canadian respirologist and scientist in physiology and experimental medicine. She is a Tier 1 Canada Research Chair in Pediatric Asthma and Lung Health at the University of Toronto and the Associate Chief of Clinical Research at SickKids Hospital.