Stephen Jacob Chanock (born April 15, 1956) is an American physician and geneticist. He currently serves as Director of the Division of Cancer Epidemiology and Genetics at the U.S. National Cancer Institute (NCI). [1]
Stephen Jacob Chanock (born April 15, 1956) is an American physician and geneticist. He currently serves as Director of the Division of Cancer Epidemiology and Genetics at the U.S. National Cancer Institute (NCI). [1]
Stephen Chanock is the son of NIH scientist Robert M. Chanock, discoverer of human respiratory syncytial virus.
Chanock completed undergraduate studies at Princeton University in 1978, and his medical training at Harvard Medical School in 1983. He completed clinical training in pediatrics, pediatric infectious diseases, and pediatric hematology/oncology at Boston Children’s Hospital and the Dana–Farber Cancer Institute, Boston, MA. He has held multiple positions, both in research and scientific leadership over his career at the NCI. [1] He has received numerous awards for his work in the discovery and characterization of cancer susceptibility regions in the human genome. These include the Niehaus, Southorth, Weissenbach Award in Clinical Cancer Genetics and the NIH Directors Award. Chanock is an elected member of Association of American Physicians, the American Epidemiology Society, the Society for Pediatric Research and the American Association of Cancer Research. He is the author of over 1200 publications and dozens of book chapters.
Since 1995, Chanock has served as the Medical Director for Camp Fantastic, a week-long recreational camp for pediatric cancer patients.
Chanock co-leads several international consortial studies to identify and characterize the genetics of cancer susceptibility including BRCA Challenge, Game-On, and the NCI Cohort Consortium. His work focuses specifically on efforts to clarify the genetic architecture of cancer susceptibility, [2] [3] the scope of genetic mosaicism and its contribution to cancer risk, [4] [5] and how germline variation informs our understanding of somatic alterations in cancer [6] [7] and investigation of how ionizing radiation causes thyroid cancer in children exposed to the Chornobyl accident and the lack of evidence for a transgenerational effect in cleanup workers following the Chornobyl accident. [8] [9]
Ewing sarcoma is a type of pediatric cancer that forms in bone or soft tissue. Symptoms may include swelling and pain at the site of the tumor, fever, and a bone fracture. The most common areas where it begins are the legs, pelvis, and chest wall. In about 25% of cases, the cancer has already spread to other parts of the body at the time of diagnosis. Complications may include a pleural effusion or paraplegia.
ATP-binding cassette, sub-family B member 11 (ABCB11), also known as the bile salt export pump (BSEP), is a protein which in humans is encoded by the ABCB11 gene.
Like many other medical conditions, obesity is the result of an interplay between environmental and genetic factors. Studies have identified variants in several genes that may contribute to weight gain and body fat distribution; although, only in a few cases are genes the primary cause of obesity.
The Center for Applied Genomics is a research center at the Children's Hospital of Philadelphia that focuses on genomics research and the utilization of basic research findings in the development of new medical treatments.
Cleft lip and palate transmembrane protein 1-like protein, also known as cisplatin resistance-related protein 9 (CRR9p), is a protein that in humans is encoded by the CLPTM1L gene. CRR9p is associated with cisplatin-induced apoptosis. CLPTM1L, which lies within a cancer susceptibility locus on chromosome 5 (5p15.33), has been found to be commonly over-expressed in lung tumors and to confer resistance to apoptosis caused by genotoxic agents in association with up-regulation of the anti-apoptotic protein, Bcl-xL. Inhibition of CLPTM1L has been shown to inhibit oncogenic transformation and tumorigenesis caused by the KRas oncogene partially through the PI3K/Akt survival signaling axis.
The PhenX Toolkit is a web-based catalog of high-priority measures related to complex diseases, phenotypic traits and environmental exposures. These measures were selected by working groups of experts using a consensus process. PhenX Toolkit's mission is to provide investigators with standard measurement protocols for use in genomic, epidemiologic, clinical and translational research. Use of PhenX measures facilitates combining data from a variety of studies, and makes it easy for investigators to expand a study design beyond the primary research focus. The Toolkit is funded by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) with co-funding by the Office of the Director (OD), the National Institute of Neurological Disorders and Stroke (NINDS), and the National Heart, Lung, and Blood Institute (NHLBI). Continuously funded since 2007, PhenX has received funding from a variety of NIH institutes, including the National Institute on Drug Abuse (NIDA), the National Institute on Mental Health (NIMH), the National Cancer Institute (NCI) and the National Institute on Minority Health and Health Disparities (NIMHD). The PhenX Toolkit is available to the scientific community at no cost.
Sabera Nazneen Rahman is a geneticist who specialises in cancer research and is a non-executive director for Astra Zeneca. She was previously head of Genetics and Epidemiology at the Institute of Cancer Research.
Nilanjan Chatterjee is a Bloomberg Distinguished Professor of Biostatistics and Genetic Epidemiology at Johns Hopkins University, with appointments in the Department of Biostatistics in the Bloomberg School of Public Health and in the Department of Oncology in the Sidney Kimmel Comprehensive Cancer Center in the Johns Hopkins School of Medicine. He was formerly the chief of the Biostatistics Branch of the National Cancer Institute's Division of Cancer Epidemiology and Genetics.
Polygenic adaptation describes a process in which a population adapts through small changes in allele frequencies at hundreds or thousands of loci.
Copine 3 is a protein that in humans is encoded by the CPNE3 gene.
In statistical genetics, linkage disequilibrium score regression is a technique that aims to quantify the separate contributions of polygenic effects and various confounding factors, such as population stratification, based on summary statistics from genome-wide association studies (GWASs). The approach involves using regression analysis to examine the relationship between linkage disequilibrium scores and the test statistics of the single-nucleotide polymorphisms (SNPs) from the GWAS. Here, the "linkage disequilibrium score" for a SNP "is the sum of LD r2 measured with all other SNPs".
Muntaser Eltayeb Ibrahim is a Sudanese geneticist and professor of molecular biology at the University of Khartoum, where he leads its Institute of Endemic Diseases. Science described him as "one of Sudan's most distinguished living scholars". His research focuses on human genetic diversity in Africa, human genetic variation contributing to susceptibility to infectious diseases such as malaria and leishmaniasis, and cancer genetics.
Charles Nohuoma Rotimi is the Scientific Director of the National Human Genome Research Institute (NHGRI). He joined the National Institutes of Health (NIH) in 2008 as the inaugural Director of the Trans-NIH Center for Research in Genomics and Global Health and was also the chief of the NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. He works to ensure that population genetics include genomes from African populations and founded the African Society of Human Genetics in 2003 and was elected its first president. Rotimi was instrumental in the launch of the Human Heredity and Health in Africa (H3Africa) with the NIH and the Wellcome Trust. He was elected to the National Academy of Medicine in 2018.
Emmanouil Theophilos Dermitzakis is a Greek human geneticist and professor in the Department of Genetic Medicine and Development at the University of Geneva, where he is also Director of the Health 2030 Genome Center. He is an ISI Highly Cited Researcher and an elected member of the European Molecular Biology Organization. He is a member of the Swiss Institute of Bioinformatics, where his research group is focused on the genetics and genomics of complex traits in humans. He has joined GlaxoSmithKline as Vice President, Computational Biology in R&D.
Suzanne Kathleen Chambers, is a Professor and Dean of the Faculty of Health at Sydney's University of Technology. She specialises in psycho-oncology, and has received Queen's Birthday honours. Chambers has worked on psycho-oncology, prostate cancer, health economics and psychological interventions including the distress and adjustments after cancer.
Human somatic variations are somatic mutations both at early stages of development and in adult cells. These variations can lead either to pathogenic phenotypes or not, even if their function in healthy conditions is not completely clear yet.
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.
Transcriptome-wide association study (TWAS) is a genetic methodology that can be used to compare the genetic components of gene expression and the genetic components of a trait to determine if an association is present between the two components. TWAS are useful for the identification and prioritization of candidate causal genes in candidate gene analysis following genome-wide association studies. TWAS looks at the RNA products of a specific tissue and gives researchers the abilities to look at the genes being expressed as well as gene expression levels, which varies by tissue type. TWAS are valuable and flexible bioinformatics tools that looks at the associations between the expressions of genes and complex traits and diseases. By looking at the association between gene expression and the trait expressed, genetic regulatory mechanisms can be investigated for the role that they play in the development of specific traits and diseases.
Deborah Ann "Debbie" Nickerson was an American human genomics researcher. She was professor of genome sciences at the University of Washington. Nickerson founded and directed of one of the five clinical sites of the Gregor Consortium and was a major contributor to many genomics projects, including the Human Genome Project and the International HapMap Project.
Mahmud Barmada, known as Michael Barmada, (1969–2016) was an American geneticist. He was a Distinguished Professor at the University of Pittsburgh School of Medicine.
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