Biostatistics are the development and application of statistical methods to a wide range of topics in biology. It encompasses the design of biological experiments, the collection and analysis of data from those experiments and the interpretation of the results.
Luigi Luca Cavalli-Sforza was an Italian geneticist. He was a population geneticist who taught at the University of Parma, the University of Pavia and then at Stanford University.
Twin studies are studies conducted on identical or fraternal twins. They aim to reveal the importance of environmental and genetic influences for traits, phenotypes, and disorders. Twin research is considered a key tool in behavioral genetics and in content fields, from biology to psychology. Twin studies are part of the broader methodology used in behavior genetics, which uses all data that are genetically informative – siblings studies, adoption studies, pedigree, etc. These studies have been used to track traits ranging from personal behavior to the presentation of severe mental illnesses such as schizophrenia.
Human behaviour genetics is an interdisciplinary subfield of behaviour genetics that studies the role of genetic and environmental influences on human behaviour. Classically, human behavioural geneticists have studied the inheritance of behavioural traits. The field was originally focused on determining the importance of genetic influences on human behaviour. It has evolved to address more complex questions such as: how important are genetic and/or environmental influences on various human behavioural traits; to what extent do the same genetic and/or environmental influences impact the overlap between human behavioural traits; how do genetic and/or environmental influences on behaviour change across development; and what environmental factors moderate the importance of genetic effects on human behaviour. The field is interdisciplinary, and draws from genetics, psychology, and statistics. Most recently, the field has moved into the area of statistical genetics, with many behavioural geneticists also involved in efforts to identify the specific genes involved in human behaviour, and to understand how the effects associated with these genes changes across time, and in conjunction with the environment.
Gene–environment interaction is when two different genotypes respond to environmental variation in different ways. A norm of reaction is a graph that shows the relationship between genes and environmental factors when phenotypic differences are continuous. They can help illustrate GxE interactions. When the norm of reaction is not parallel, as shown in the figure below, there is a gene by environment interaction. This indicates that each genotype responds to environmental variation in a different way. Environmental variation can be physical, chemical, biological, behavior patterns or life events.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Neil Risch is an American human geneticist and professor at the University of California, San Francisco (UCSF). Risch is the Lamond Family Foundation Distinguished Professor in Human Genetics and Director of the Institute for Human Genetics and Professor of Epidemiology and Biostatistics at UCSF.
Ranajit Chakraborty was a human and population geneticist. At the time of his death, he was Director of the Center for Computational Genomics at the Institute of Applied Genetics and Professor in the Department of Forensic and Investigative Genetics at the University of North Texas Health Science Center in Fort Worth, Texas. His scientific contributions include studies in human genetics, population genetics, genetic epidemiology, statistical genetics, and forensic genetics.
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.
Race and health refers to how being identified with a specific race influences health. Race is a complex concept that has changed across chronological eras and depends on both self-identification and social recognition. In the study of race and health, scientists organize people in racial categories depending on different factors such as: phenotype, ancestry, social identity, genetic makeup and lived experience. “Race” and ethnicity often remain undifferentiated in health research.
In epidemiology, Mendelian randomization is a method using measured variation in genes to interrogate the causal effect of an exposure on an outcome. Under key assumptions, the design reduces both reverse causation and confounding, which often substantially impede or mislead the interpretation of results from epidemiological studies.
In genomics, a genome-wide association study, also known as whole genome association study, is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms.
Genetic epidemiology is the study of the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Genetic epidemiology seeks to derive a statistical and quantitative analysis of how genetics work in large groups.
Behavioural genetics, also referred to as behaviour genetics, is a field of scientific research that uses genetic methods to investigate the nature and origins of individual differences in behaviour. While the name "behavioural genetics" connotes a focus on genetic influences, the field broadly investigates the extent to which genetic and environmental factors influence individual differences, using research designs that allow removal of the confounding of genes and environment. Behavioural genetics was founded as a scientific discipline by Francis Galton in the late 19th century, only to be discredited through association with eugenics movements before and during World War II. In the latter half of the 20th century, the field saw renewed prominence with research on inheritance of behaviour and mental illness in humans, as well as research on genetically informative model organisms through selective breeding and crosses. In the late 20th and early 21st centuries, technological advances in molecular genetics made it possible to measure and modify the genome directly. This led to major advances in model organism research and in human studies, leading to new scientific discoveries.
William Jackson (Jack) Schull was an American geneticist and Professor Emeritus of Human Genetics at The University of Texas Health Science Center at Houston. He worked for the Atomic Bomb Casualty Commission in Japan, was one of the founding members of the Department of Human Genetics at the University of Michigan, and was the founding director of the Center for Demographic and Population Genetics at the University of Texas at Houston. His scientific contributions include studies on the effects of ionizing radiation on human health, the role of heredity and the interaction of heredity and environment in the etiology of chronic disease, the effects of inbreeding in human populations, the mechanisms of adaptations to hypoxic conditions, and the genetic epidemiology of populations burdened by chronic diseases associated with low socio-economic status.
Health among the Amish is characterized by higher incidences of particular genetic disorders, especially among the Old Order Amish. These disorders include dwarfism, Angelman syndrome, and various metabolic disorders, such as Tay-Sachs disease, as well as an unusual distribution of blood types.
Benjamin Michael Neale is a statistical geneticist with a specialty in psychiatric genetics. He is an institute member at the Broad Institute as well as an associate professor at both Harvard Medical School and the Analytic and Translational Genetics Unit at Massachusetts General Hospital. Neale specializes in genome-wide association studies (GWAS). He was responsible for the data analysis of the first GWAS on attention-deficit/hyperactivity-disorder, and he developed new analysis software such as PLINK, which allows for whole-genome data to be analyzed for specific gene markers. Related to his work on GWAS, Neale is the lead of the ADHD psychiatric genetics and also a member of the Psychiatric GWAS Consortium analysis committee.
Muin Joseph Khoury is an American geneticist and epidemiologist who conducts research in the field of public health genomics. He is the founding director of the Office of Public Health Genomics at the Centers for Disease Control and Prevention since 1997. He has also been a senior advisor in public health genomics at the National Cancer Institute since 2007.
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.
