Health among the Amish is characterized by higher incidences of particular genetic disorders, especially among the Old Order Amish. These disorders include dwarfism, [1] Angelman syndrome, [2] and various metabolic disorders, such as Tay-Sachs disease, [3] as well as an unusual distribution of blood types. [4]
Amish represent a collection of different demes or genetically closed communities. [5] Since almost all Amish descend from about 500 18th-century founders,[ citation needed ] genetic disorders that come out due to inbreeding exist in more isolated districts (an example of the founder effect). These disorders include dwarfism (Ellis–van Creveld syndrome), [1] Angelman syndrome, [2] and various metabolic disorders, [6] [3] as well as an unusual distribution of blood types. [4] Some of these disorders are quite rare, or unique, and are serious enough to increase the mortality rate among Amish children. The majority of Amish accept these as "Gottes Wille" (God's will); they reject use of preventive genetic tests prior to marriage and genetic testing of unborn children to discover genetic disorders. However, Amish are willing to participate in studies of genetic diseases. Their extensive family histories are useful to researchers investigating diseases such as Alzheimer's, Parkinson's, and macular degeneration.
While the Amish are at an increased risk for some genetic disorders, researchers at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James) have found their tendency for clean living can lead to better health. Overall cancer rates in the Amish are 60 percent of the age-adjusted rate for Ohio and 56 percent of the national rate. Tobacco-related cancers in Amish adults are 37 percent and non-tobacco-related cancers are 72 percent of the rate for Ohio adults. The Amish are protected against many types of cancer both through their lifestyle—there is very little tobacco or alcohol use and limited sexual partners—and through genes that may reduce their susceptibility to cancer. Dr. Judith Westman, director of human genetics at OSUCCC – James, conducted the study. The findings were reported in a recent issue of the journal Cancer Causes & Control . Even skin cancer rates are lower for Amish, despite the fact many Amish make their living working outdoors where they are exposed to sunlight and UV rays. They are typically covered and dressed to work in the sun by wearing wide-brimmed hats and long sleeves which protect their skin. [7]
The Amish are conscious of the advantages of exogamy. A common bloodline in one community will often be absent in another, and genetic disorders can be avoided by choosing spouses from unrelated communities. For example, the founding families of the Lancaster County Amish are unrelated to the founders of the Perth County, Ontario Amish community. Because of a smaller gene pool, some groups have increased incidences of certain inheritable conditions. [8]
The Old Order Amish do not typically carry private commercial health insurance. [9] [10] About two-thirds of the Amish in Pennsylvania's Lancaster County participate in Church Aid, an informal self-insurance plan for helping members with catastrophic medical expenses. [9] A handful of American hospitals, starting in the mid-1990s, created special outreach programs to assist the Amish. The first of these programs was instituted at the Susquehanna Health System in central Pennsylvania by James Huebert. This program has earned national media attention in the United States, and has spread to several surrounding hospitals. [11] [12] Treating genetic problems is the mission of Clinic for Special Children in Strasburg, Pennsylvania, which has developed effective treatments for such problems as maple syrup urine disease, a previously fatal disease. The clinic is embraced by most Amish, ending the need for parents to leave the community to receive proper care for their children, an action that might result in shunning.
DDC Clinic for Special Needs Children, located in Middlefield, Ohio, has been treating special-needs children with inherited or metabolic disorders since May 2002. [13] The DDC Clinic provides treatment, research, and educational services to Amish and non-Amish children and their families.
The prevalence of asthma in the Amish of Indiana was low at 5.2% as compared to 21.3% in Hutterite schoolchildren of South Dakota; likewise the prevalence of allergic sensitization was 7.2% versus 33.3%. The lifestyles of the two groups are similar except for farming practices, where Hutterites use industrialized farming whereas Amish do not. In a study from 2016, important differences in the children's innate immune cells and in the allergy inducing nature of the dust in their homes were found, leading to the conclusion that the Amish environment had protected against asthma by shaping the innate immune response. [14]
Most Amish clearly seem to use some form of birth control, a fact that generally is not discussed among the Amish, but indicated by the fact that the number of children systematically increases in correlation with the conservatism of a congregation, the more conservative, the more children. The large number of children is due to the fact that many children are appreciated by the community and not because there is no birth control. [15] Some communities openly allow access to birth control to women whose health would be compromised by childbirth. [16] The Amish are against abortion and also find "artificial insemination, genetics, eugenics, and stem cell research" to be "inconsistent with Amish values and beliefs". [17]
People's Helpers is an Amish-organized network of mental health caregivers who help families dealing with mental illness and recommend professional counselors. [18] Suicide rates for the Amish of Lancaster County were 5.5 per 100,000 in 1980, about half that of the general population. [lower-alpha 1]
Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences that may arise from expression of deleterious recessive traits resulting from incestuous sexual relationships and consanguinity. Animals avoid incest only rarely.
This article contains references to literature on the Amish in the following field: Education, Health, Music and Tourism. There is also a list of list of literature in the article Amish.
In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, using existing theoretical work by those such as Sewall Wright. As a result of the loss of genetic variation, the new population may be distinctively different, both genotypically and phenotypically, from the parent population from which it is derived. In extreme cases, the founder effect is thought to lead to the speciation and subsequent evolution of new species.
Victor Almon McKusick was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its use for studying congenital diseases. He is well known for his studies of the Amish. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man (MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM). He is widely known as the "father of medical genetics".
A DNA segment is identical by state (IBS) in two or more individuals if they have identical nucleotide sequences in this segment. An IBS segment is identical by descent (IBD) in two or more individuals if they have inherited it from a common ancestor without recombination, that is, the segment has the same ancestral origin in these individuals. DNA segments that are IBD are IBS per definition, but segments that are not IBD can still be IBS due to the same mutations in different individuals or recombinations that do not alter the segment.
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
Cartilage–hair hypoplasia (CHH) is a rare genetic disorder. Symptoms may include short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency, and predisposition to cancer. It was first reported by Victor McKusick in 1965.
Neurodevelopmental disorders are a group of conditions that begin to emerge during childhood. According to the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (DSM-5) published in 2013, these conditions generally appear in early childhood, usually before children start school, and can persist into adulthood. The key characteristic of all these disorders is that they negatively impact a person's functioning in one or more domains of life depending on the disorder and deficits it has caused. All of these disorders and their levels of impairment exist on a spectrum, and affected individuals can experience varying degrees of symptoms and deficits, despite having the same diagnosis.
The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis. Although the genetics of autism are complex, autism spectrum disorder (ASD) is explained more by multigene effects than by rare mutations with large effects.
25-Hydroxyvitamin D 1-alpha-hydroxylase also known as calcidiol 1-monooxygenase or cytochrome p450 27B1 (CYP27B1) or simply 1-alpha-hydroxylase is a cytochrome P450 enzyme that in humans is encoded by the CYP27B1 gene.
Transcription factor 7-like 2 , also known as TCF7L2 or TCF4, is a protein acting as a transcription factor that, in humans, is encoded by the TCF7L2 gene. The TCF7L2 gene is located on chromosome 10q25.2–q25.3, contains 19 exons. As a member of the TCF family, TCF7L2 can form a bipartite transcription factor and influence several biological pathways, including the Wnt signalling pathway.
Transient receptor potential cation channel, subfamily M, member 2, also known as TRPM2, is a protein that in humans is encoded by the TRPM2 gene.
The Amish, formally the Old Order Amish, are an ethnoreligious group with Swiss German and Alsatian origins. Consisting of several Anabaptist Christian church fellowships, they are closely related to Mennonites, a separate Anabaptist denomination. The Amish are known for simple living, plain dress, Christian pacifism, and slowness to adopt many conveniences of modern technology, with a view neither to interrupt family time, nor replace face-to-face conversations whenever possible, and a view to maintain self-sufficiency. The Amish value rural life, manual labor, humility and Gelassenheit. As they rarely accept converts, maintain a separate language and culture from surrounding populations, and hold their faith in common, they have been described by scholars as an ethnoreligious group, combining features of an ethnicity and a denomination.
Wolcott–Rallison syndrome,WRS, is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3 gene, which encodes the eukaryotic translation initiation factor 2-alpha kinase 3. Other disease names include multiple epiphyseal dysplasia and early-onset diabetes mellitus. Most patients with this disease do not survive to adulthood. The majority of WRS patients die from fulminant hepatitis during childhood. There are few reported cases for this disease. Of the 54 families worldwide with reported WRS cases, 22.2% of them are from the Kingdom of Saudi Arabia. Of the 23 WRS patients in Saudi Arabia, all but one is the result of consanguineous marriages. Another country where WRS cases have been found is Kosovo. Here, the Albanian population is also known for consanguineous marriages, but there were some cases involving patients from non-consanguineous parents that were carriers for the same mutant allele.
David Matthew Altshuler is a clinical endocrinologist and human geneticist. He is Executive Vice President, Global Research and Chief Scientific Officer at Vertex Pharmaceuticals. Prior to joining Vertex in 2014, he was at the Broad Institute of Harvard and MIT, and was a Professor of Genetics and Medicine at Harvard Medical School, and in the Department of Biology at Massachusetts Institute of Technology. He was also a faculty member in the Department of Molecular Biology, Center for Human Genetic Research, and the Diabetes Unit, all at Massachusetts General Hospital. He was one of four Founding Core Members of the Broad Institute, and served as the Institute's Deputy Director, Chief Academic Officer, and Director of the Program in Medical and Population Genetics.
Genetic studies on Arabs refers to the analyses of the genetics of ethnic Arab people in the Middle East and North Africa. Arabs are genetically diverse as a result of their intermarriage and mixing with indigenous people of the pre-Islamic Middle East and North Africa following the Arab and Islamic expansion. Genetic ancestry components related to the Arabian Peninsula display an increasing frequency pattern from west to east over North Africa. A similar frequency pattern exist across northeastern Africa with decreasing genetic affinities to groups of the Arabian Peninsula along the Nile river valley across Sudan and the more they go south. This genetic cline of admixture is dated to the time of Arab expansion and immigration to North Africa (Maghreb) and northeast Africa.
Nir Barzilai is the founding director of the Institute for Aging Research, the Nathan Shock Center of Excellence in the Basic Biology of Aging and the Paul F. Glenn Center for the Biology of Human Aging Research at Albert Einstein College of Medicine (Einstein). He also directs the Longevity Genes Project, a genetics study of over 600 families of centenarians and their children. The participants are all Ashkenazi Jews, a group selected for their genetic homogeneity, which makes it easier to identify significant genetic variations. Barzilai found that many of the centenarians had very high levels of HDL. Barzilai also co-founded of CohBar, Inc., a biotechnology company developing mitochondria based therapeutics to treat diseases associated with aging.
Predictive genomics is at the intersection of multiple disciplines: predictive medicine, personal genomics and translational bioinformatics. Specifically, predictive genomics deals with the future phenotypic outcomes via prediction in areas such as complex multifactorial diseases in humans. To date, the success of predictive genomics has been dependent on the genetic framework underlying these applications, typically explored in genome-wide association (GWA) studies. The identification of associated single-nucleotide polymorphisms underpin GWA studies in complex diseases that have ranged from Type 2 Diabetes (T2D), Age-related macular degeneration (AMD) and Crohn's disease.
Ets variant 5 (ETV5) is a transcription factor that in humans is encoded by the ETV5 gene. It is generated in Sertoli cells, which are found in the testes and play a crucial role in spermatogenesis. Its ortholog has been linked to both obesity and bipolar disorder.
In genetics, a polygenic score (PGS) is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype. The PGS is also called the polygenic index (PGI) or genome-wide score; in the context of disease risk, it is called a polygenic risk score or genetic risk score. The score reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. It gives an estimate of how likely an individual is to have a given trait based only on genetics, without taking environmental factors into account; and it is typically calculated as a weighted sum of trait-associated alleles.
Regional hospitals and midwives routinely send whole-blood filter paper neonatal screens for tandem mass spectrometry and other modern analytical methods to detect 14 of the metabolic disorders found in these populations…
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