Leukemia is a group of blood cancers that usually begin in the bone marrow and result in high numbers of abnormal blood cells. These blood cells are not fully developed and are called blasts or leukemia cells. Symptoms may include bleeding and bruising, bone pain, fatigue, fever, and an increased risk of infections. These symptoms occur due to a lack of normal blood cells. Diagnosis is typically made by blood tests or bone marrow biopsy.
Cardiomyopathy is a group of primary diseases of the heart muscle. Early on there may be few or no symptoms. As the disease worsens, shortness of breath, feeling tired, and swelling of the legs may occur, due to the onset of heart failure. An irregular heart beat and fainting may occur. Those affected are at an increased risk of sudden cardiac death.
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. A general lack of coordination and an unsteady gait often follow. It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea. As the disease advances, uncoordinated, involuntary body movements of chorea become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia, depression, apathy, and impulsivity at times. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age, and can start at any age but are usually seen around the age of 40. The disease may develop earlier in each successive generation. About eight percent of cases start before the age of 20 years, and are known as juvenile HD, which typically present with the slow movement symptoms of Parkinson's disease rather than those of chorea.
Epidemiology is the study and analysis of the distribution, patterns and determinants of health and disease conditions in a defined population.
Penetrance in genetics is the proportion of individuals carrying a particular variant of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all individuals with such mutation. For example: If a mutation in the gene responsible for a particular autosomal dominant disorder has 75% penetrance, then 75% of those with the mutation will go on to develop the disease, showing its phenotype, whereas 25% will not.
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 related 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.
The gateway drug effect is a comprehensive catchphrase for the often observed effect that the use of a psychoactive substance is coupled to an increased probability of the use of further substances. Possible reasons for the connection include environmental influence, impulsive people seeking both soft and hard drugs, alterations in the brain due to earlier substance exposure, as well as similar attitudes of people who use different substances, and therefore experience a "common liability to addiction". In 2020, the National Institute on Drug Abuse released a research report which supported allegations that marijuana is a "gateway" to more dangerous substance use; one of the peer-reviewed papers cited in the report claims that while "some studies have found that use of legal drugs or cannabis are not a requirement for the progression to other illicit drugs [...] most studies have supported the "gateway sequence"." However, a 2018 literature review conducted by the National Institute of Justice, which analyzed 23 peer-reviewed research studies, concluded "that existing statistical research and analysis relevant to the "gateway" hypothesis has produced mixed results", and that "no causal link between cannabis use and the use of other illicit drugs can be claimed at this time."
UK Biobank is a large long-term biobank study in the United Kingdom (UK) which is investigating the respective contributions of genetic predisposition and environmental exposure to the development of disease. It began in 2006. UK Biobank has been cited as an important resource for cancer research.
The Framingham Heart Study is a long-term, ongoing cardiovascular cohort study of residents of the city of Framingham, Massachusetts. The study began in 1948 with 5,209 adult subjects from Framingham, and is now on its third generation of participants. Prior to the study almost nothing was known about the epidemiology of hypertensive or arteriosclerotic cardiovascular disease. Much of the now-common knowledge concerning heart disease, such as the effects of diet, exercise, and common medications such as aspirin, is based on this longitudinal study. It is a project of the National Heart, Lung, and Blood Institute, in collaboration with Boston University. Various health professionals from the hospitals and universities of Greater Boston staff the project.
The Minnesota Center for Twin and Family Research is a series of behavioral genetic longitudinal studies of families with twin or adoptive offspring conducted by researchers at the University of Minnesota. It seeks to identify and characterize the genetic and environmental influences on the development of psychological traits.
Research on the heritability of IQ inquires into the degree of variation in IQ within a population that is due to genetic variation between individuals in that population. There has been significant controversy in the academic community about the heritability of IQ since research on the issue began in the late nineteenth century. Intelligence in the normal range is a polygenic trait, meaning that it is influenced by more than one gene, and in the case of intelligence at least 500 genes. Further, explaining the similarity in IQ of closely related persons requires careful study because environmental factors may be correlated with genetic factors.
An autoimmune disease is a condition that results from an anomalous response of the adaptive immune system, wherein it mistakenly targets and attacks healthy, functioning parts of the body as if they were foreign organisms. It is estimated that there are more than 80 recognized autoimmune diseases, with recent scientific evidence suggesting the existence of potentially more than 100 distinct conditions. Nearly any body part can be involved.
Cognitive epidemiology is a field of research that examines the associations between intelligence test scores and health, more specifically morbidity and mortality. Typically, test scores are obtained at an early age, and compared to later morbidity and mortality. In addition to exploring and establishing these associations, cognitive epidemiology seeks to understand causal relationships between intelligence and health outcomes. Researchers in the field argue that intelligence measured at an early age is an important predictor of later health and mortality differences.
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, and the development of research designs that can remove 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.
Diabetes mellitus, often known simply as diabetes, is a group of common endocrine diseases characterized by sustained high blood sugar levels. Diabetes is due to either the pancreas not producing enough insulin, or the cells of the body becoming unresponsive to the hormone's effects. Classic symptoms include thirst, polyuria, weight loss, and blurred vision. If left untreated, the disease can lead to various health complications, including disorders of the cardiovascular system, eye, kidney, and nerves. Untreated or poorly treated diabetes accounts for approximately 1.5 million deaths every year.
Generation R is a prospective, population based cohort study from fetal life until young adulthood in a multi-ethnic urban population in Rotterdam, the Netherlands. The study is designed to identify early environmental and genetic causes of normal and abnormal growth, development and health. Eventually, results forthcoming from the Generation R Study have to contribute to the development of strategies for optimizing health and healthcare for pregnant women and children.
Cyclotraxin B (CTX-B) is a small (1200 Da) cyclic peptide and highly potent, selective, non-competitive antagonist or negative allosteric modulator of TrkB (IC50 = 0.30 nM), the main receptor of brain-derived neurotrophic factor (BDNF), which itself was derived from BDNF. It crosses the blood-brain-barrier with systemic administration and produces anxiolytic-like effects in animals, though notably not antidepressant-like effects. The compound has also been found to produce analgesic effects in animal models of neuropathic pain. In addition to TrkB, CTX-B has been found to be an allosteric modulator of VEGFR2, one of the receptors of vascular endothelial growth factor (VEGF).
Timothy David Spector is a British epidemiologist, medical doctor, and science writer.
Ming Tso Tsuang is an American psychiatrist and Distinguished Professor of Psychiatry at the University of California, San Diego. He is considered a pioneering researcher in the genetic epidemiology of schizophrenia and other severe mental disorders. Tsuang has authored and co-authored more than 600 publications and serves as founding and senior editor of the American Journal of Medical Genetics Part B.
The Swedish Twin Registry is a twin registry based at the Karolinska Institutet in Stockholm, Sweden. Originally established in the 1960s, it is the largest twin registry in the world. It is widely used for medical research, with about thirty active research projects using data from the study as of 2019. As of 2012, it contained a total of 194,000 twins, 75,000 of whom were of a known zygosity. In principle, it contains records of every twin born in Sweden since 1886.
