Genetic disorders in the context of Embryonic stem cell

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.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Incest (/ˈɪnsɛst/ IN-sest) is sex between close relatives, for example a brother, sister, or parent. This typically includes any kind of sexual activity between people in consanguinity (blood relations), and sometimes those related by lineage. It is condemned and considered immoral in many societies. It can lead to an increased risk of genetic disorders in children in case of pregnancy from incestuous sex.

The incest taboo is one of the most widespread of all cultural taboos, both in present and in past societies. Most modern societies have laws regarding incest or social restrictions on closely consanguineous marriages. In societies where it is illegal, consensual adult incest is seen by some as a victimless crime. Some cultures extend the incest taboo to relatives with no consanguinity, such as milk-siblings, stepsiblings, and adoptive siblings, albeit sometimes with less intensity. Third-degree relatives (such as half-aunt, half-nephew, first cousin) on average have 12.5% common genetic heritage, and sexual relations between them are viewed differently in various cultures, from being discouraged to being socially acceptable. Children of incestuous relationships have been regarded as illegitimate, and are still so regarded in some societies today. In most cases, the parents did not have the option to marry to remove that status, as incestuous marriages were, and are, normally also prohibited.

Embryonic stem cells (ESCs) are pluripotent stem cells derived from the inner cell mass of a blastocyst, an early-stage pre-implantation embryo. Human embryos reach the blastocyst stage 4–5 days post fertilization, at which time they consist of 50–150 cells. Isolating the inner cell mass (embryoblast) using immunosurgery results in destruction of the blastocyst, a process which raises ethical issues, including whether or not embryos at the pre-implantation stage have the same moral considerations as embryos in the post-implantation stage of development.

Researchers focus heavily on the therapeutic potential of embryonic stem cells, with clinical use being the goal for many laboratories. Potential uses include the treatment of diabetes and heart disease. The cells are studied to be used as clinical therapies, models of genetic disorders, and cellular/DNA repair. However, adverse effects in the research and clinical processes such as tumors and unwanted immune responses have also been reported.

Osteogenesis imperfecta (IPA: /ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems and problems with the teeth (dentinogenesis imperfecta). Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing (dissection) of the major arteries, such as the aorta; pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination.

The underlying mechanism is usually a problem with connective tissue due to a lack of, or poorly formed, type I collagen. In more than 90% of cases, OI occurs due to mutations in the COL1A1 or COL1A2 genes. These mutations may be hereditary in an autosomal dominant manner but may also occur spontaneously (de novo). There are four clinically defined types: type I, the least severe; type IV, moderately severe; type III, severe and progressively deforming; and type II, perinatally lethal. As of September 2021, 19 different genes are known to cause the 21 documented genetically defined types of OI, many of which are extremely rare and have only been documented in a few individuals. Diagnosis is often based on symptoms and may be confirmed by collagen biopsy or DNA sequencing.

Incest (/ˈɪnsɛst/ IN-sest) is sex between close relatives, such as a brother, sister, or parent. This typically includes any kind of sexual activity between people in consanguinity (blood relations), and sometimes those related by lineage. It is condemned and considered immoral in many societies. It can lead to an increased risk of genetic disorders in children in case of pregnancy from incestuous sex.

The incest taboo is one of the most widespread of all cultural taboos, both in present and in past societies. Most modern societies have laws regarding incest or social restrictions on closely consanguineous marriages. In societies where it is illegal, consensual adult incest is seen by some as a victimless crime. Some cultures extend the incest taboo to relatives with no consanguinity, such as milk-siblings, stepsiblings, and adoptive siblings, albeit sometimes with less intensity. Third-degree relatives (such as half-aunt, half-nephew, first cousin) on average have 12.5% common genetic heritage, and sexual relations between them are viewed differently in various cultures, from being discouraged to being socially acceptable. Children of incestuous relationships have been regarded as illegitimate, and are still so regarded in some societies today. In most cases, the parents did not have the option to marry to remove that status, as incestuous marriages were, and are, normally also prohibited.

The kynurenine pathway is a metabolic pathway leading to the production of nicotinamide adenine dinucleotide (NAD). Metabolites involved in the kynurenine pathway include tryptophan, kynurenine, kynurenic acid, xanthurenic acid, quinolinic acid, and 3-hydroxykynurenine. The kynurenine pathway is responsible for about 95% of total tryptophan catabolism. Disruption in the pathway is associated with certain genetic and psychiatric disorders.

In genetics, trinucleotide repeat disorders, a subset of microsatellite expansion diseases (also known as repeat expansion disorders), are a set of over 30 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides (trinucleotide repeats) increase in copy numbers until they cross a threshold above which they cause developmental, neurological or neuromuscular disorders. In addition to the expansions of these trinucleotide repeats, expansions of one tetranucleotide (CCTG), five pentanucleotide (ATTCT, TGGAA, TTTTA, TTTCA, and AAGGG), three hexanucleotide (GGCCTG, CCCTCT, and GGGGCC), and one dodecanucleotide (CCCCGCCCCGCG) repeat cause 13 other diseases. Depending on its location, the unstable trinucleotide repeat may cause defects in a protein encoded by a gene; change the regulation of gene expression; produce a toxic RNA, or lead to production of a toxic protein. In general, the larger the expansion the faster the onset of disease, and the more severe the disease becomes.

Trinucleotide repeats are a subset of a larger class of unstable microsatellite repeats that occur throughout all genomes.

Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective tissue disorders. Symptoms often include loose joints, joint pain, stretchy, velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. The existing classification was last updated in 2017, when a number of rarer forms of EDS were added.

EDS occurs due to mutations in one or more particular genes—there are 19 genes that can contribute to the condition. The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. Some cases result from a new variation occurring during early development. In contrast, others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen or tenascin.