HumanHumans, or modern humans (Homo sapiens), are the most common and widespread species of primate. A great ape characterized by their hairlessness, bipedalism, and high intelligence, humans have a large brain and resulting cognitive skills that enable them to thrive in varied environments and develop complex societies and civilizations. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states.
Genetic testingGenetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup.
Prenatal testingPrenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as practicable.
Medical geneticsMedical 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.
HominidaeThe Hominidae (hɒˈmɪnᵻdiː), whose members are known as the great apes or hominids (ˈhɒmᵻnɪdz), are a taxonomic family of primates that includes eight extant species in four genera: Pongo (the Bornean, Sumatran and Tapanuli orangutan); Gorilla (the eastern and western gorilla); Pan (the chimpanzee and the bonobo); and Homo, of which only modern humans (Homo sapiens) remain. Several revisions in classifying the great apes have caused the use of the term hominid to vary over time.
Most recent common ancestorIn biology and genetic genealogy, the most recent common ancestor (MRCA), also known as the last common ancestor (LCA) or concestor, of a set of organisms is the most recent individual from which all the organisms of the set are descended. The term is also used in reference to the ancestry of groups of genes (haplotypes) rather than organisms. The MRCA of a set of individuals can sometimes be determined by referring to an established pedigree.
Genetic disorderA genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance).
Genetic genealogyGenetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used by family historians in the 21st century, as DNA tests became affordable. The tests have been promoted by amateur groups, such as surname study groups or regional genealogical groups, as well as research projects such as the Genographic Project. about 30 million people had been tested.
AmniocentesisAmniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation. In this procedure, a thin needle is inserted into the abdomen of the pregnant woman.
Genetic counselingGenetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine.
Genealogical DNA testA genealogical DNA test is a DNA-based genetic test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or (with lower reliability) to estimate the ethnic mixture of an individual. Since different testing companies use different ethnic reference groups and different matching algorithms, ethnicity estimates for an individual vary between tests, sometimes dramatically.
NeanderthalNeanderthals (niˈændə(r)ˌtɑːl,neɪ-,-ˌθɑːl; Homo neanderthalensis or H. sapiens neanderthalensis), also written as Neandertals, are an extinct species or subspecies of archaic humans who lived in Eurasia until about 40,000 years ago. The reasons for Neanderthal extinction are disputed. Theories for their extinction include demographic factors such as small population size and inbreeding, competitive replacement, interbreeding and assimilation with modern humans, climate change, disease, or a combination of these factors.
HomininiThe Hominini form a taxonomic tribe of the subfamily Homininae ("hominines"). Hominini includes the extant genera Homo (humans) and Pan (chimpanzees and bonobos) and in standard usage excludes the genus Gorilla (gorillas). The term was originally introduced by Camille Arambourg (1948). Arambourg combined the categories of Hominina and Simiina due to Gray (1825) into his new subtribe. Traditionally, chimpanzees, gorillas and orangutans were grouped together as pongids.
HomoHomo () is the genus that emerged from the genus Australopithecus and encompasses the extant species Homo sapiens (modern humans) and several extinct species classified as either ancestral to or closely related to modern humans, including Homo erectus and Homo neanderthalensis. The oldest member of the genus is Homo habilis, with records of just over 2 million years ago. Homo, together with the genus Paranthropus, is probably sister to Australopithecus africanus, which itself had split from the lineage of Pan, the chimpanzees.
Sickle cell diseaseSickle cell disease (SCD) is a group of blood disorders typically inherited. The most common type is known as sickle cell anaemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to a rigid, sickle-like shape under certain circumstances. Problems in sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain (known as a sickle cell crisis), anemia, swelling in the hands and feet, bacterial infections, and stroke.
Mitochondrial EveIn human genetics, the Mitochondrial Eve (also mt-Eve, mt-MRCA) is the matrilineal most recent common ancestor (MRCA) of all living humans. In other words, she is defined as the most recent woman from whom all living humans descend in an unbroken line purely through their mothers and through the mothers of those mothers, back until all lines converge on one woman. In terms of mitochondrial haplogroups, the mt-MRCA is situated at the divergence of macro-haplogroup L into L0 and L1–6.
Birth defectA birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders.
Homo erectusHomo erectus (ˌhoʊmoʊ_ə'rɛktəs; meaning "upright man") is an extinct species of archaic human from the Pleistocene, with its earliest occurrence about 2 million years ago. Its specimens are among the first recognizable members of the genus Homo. Several human species, such as H. heidelbergensis and H. antecessor, appear to have evolved from H. erectus, and Neanderthals, Denisovans, and modern humans are in turn generally considered to have evolved from H. heidelbergensis. H.
Autism spectrumAutism, formally called autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental disorder characterized by deficits in social communication and social interaction, and repetitive or restricted patterns of behaviors, interests, or activities, which can include hyper- and hyporeactivity to sensory input. Autism is a spectrum disorder, meaning that it can manifest very differently in each person. For example, some are nonspeaking, while others have proficient spoken language.
Human evolutionHuman evolution is the evolutionary process within the history of primates that led to the emergence of Homo sapiens as a distinct species of the hominid family, which includes all the great apes. This process involved the gradual development of traits such as human bipedalism, dexterity and complex language, as well as interbreeding with other hominins (a tribe of the African hominid subfamily), indicating that human evolution was not linear but weblike.
