Genetic disorders, sometimes referred to as birth defects, arise from alterations in our genetic code and can affect the body in a wide variety of ways. Our ancestry plays a significant role in determining our risk for inheriting certain conditions, and this is particularly evident in communities with a shared heritage, such as the Amish. Due to the community's history, which began with a small group of founders from Europe, specific genetic alterations have been passed down through generations. This phenomenon, known as the "founder effect," means that some inherited disorders are more common within the Amish population, while others are virtually nonexistent. Understanding this unique genetic landscape is crucial for providing effective medical care and has led to groundbreaking research that directly benefits families.
This focused research has profoundly improved the ability to diagnose and manage these conditions. A collaborative project involving researchers from Exeter, local clinical partners, and the Amish community has dramatically increased the rate of diagnosis for individuals with genetic disorders from less than five per cent to nearly 80 per cent. For families, receiving a specific diagnosis provides immense relief and clarity. As one mother, Malinda Yoder, explained, knowing that her children’s symptoms were caused by an actual genetic disorder was incredibly helpful, even when the condition was so new to science that it did not yet have a name. This knowledge allows families to receive accurate information about the disease's progression and prognosis, enabling better planning and support. Furthermore, it often prevents the need for a "diagnostic odyssey," where children undergo numerous expensive and stressful investigations in a search for answers.
The benefits of this translational research extend directly to clinical practice, revolutionising diagnostic testing and genetic counselling within the community. Clinicians, supported by the research findings, can now offer rapid and inexpensive genetic tests for specific disorders. Dr. Olivia Wenger of the New Leaf Clinic notes that the research allows her to quickly focus her diagnostic testing when she sees a child with an unknown cause of developmental delay, as the researchers have identified multiple conditions common in the local population. This work has led to the creation of vital resources, including a project website with a searchable database of all known inherited disorders affecting the community. This tool is widely used by healthcare providers, counsellors, and educators worldwide, ensuring that the knowledge gained from working with one community helps families impacted by these rare conditions across the globe.
What is the Amish Angelman syndrome?
Amish Angelman syndrome, also known as autosomal recessive impaired intellectual development-38 (MRT38), is a severe neurodevelopmental disorder found in individuals of Amish or mixed Amish/Mennonite descent. The condition is caused by a specific homozygous missense mutation (P594L) in the HERC2 gene. It is nicknamed "Amish Angelman syndrome" because affected individuals display some clinical features that are similar to those of classic Angelman syndrome (AS). Researchers have noted that the underlying pathophysiologic mechanism, a toxic loss of E3 ubiquitin ligase activity, is thought to be similar to that which underlies Angelman syndrome.
What is Amish life expectancy?
The life expectancy for the Amish community is generally around 71 years, a figure comparable to the U.S. national average and one that has remained stable for nearly three centuries. However, a notable exception has been discovered within an extended Old Order Amish family in Berne, Indiana. Members of this kindred who carry a specific genetic mutation—a "private mutation" that results in very low levels of the PAI-1 protein—live significantly longer. On average, these individuals live to be 85 years old, demonstrating a lifespan more than 10 percent longer than that of other Amish. This unique genetic trait not only increases their longevity but also contributes to a healthier life, or "health span," by protecting against various age-related conditions.
Why do Amish not use birth control?
The Amish traditionally do not use artificial birth control, a practice deeply rooted in their religious beliefs and cultural values. They interpret the biblical directive to "be fruitful and multiply" as a divine command, viewing children as blessings from God rather than a matter of personal planning. Consequently, procreation is considered a primary purpose of marriage, and interfering with this natural process through contraception is often seen as going against God's will. While this belief is a strong community norm and generally prohibits modern contraception, some couples may practice natural family planning methods. This perspective contributes to the characteristically large families found in Amish communities and underscores their commitment to a life of submission to divine providence.
What is the Amish chicken breast disease?
Amish chicken breast disease, formally known as Amish Nemaline Myopathy (ANM), is a severe, recessively inherited neuromuscular disorder first identified in the Old Order Amish population. The colloquial name "chicken breast disease" arises from the progressive deformity of the chest wall that develops due to respiratory muscle weakness. This lethal condition is caused by a nonsense mutation in the TNNT1 gene, which codes for the slow skeletal muscle protein troponin T. Infants with ANM are born at a normal weight but present shortly after birth with low muscle tone, hip and shoulder stiffness, and tremors, followed by progressive muscle degeneration and joint contractures. The disease course is rapid, with death typically occurring from respiratory failure at a median age of 18 months.
What is the pretzel syndrome Amish?
Pretzel syndrome, also known as Polyhydramnios–megalencephaly–symptomatic epilepsy syndrome (PMSE), is a neurodevelopmental disorder identified in the Old-Order Mennonite community. This community, like the Amish, has a limited gene pool due to a "founder effect," leading to a higher incidence of certain genetic conditions. The syndrome is caused by mutations in the STRADA gene, which is an important regulator of the mTOR signaling pathway. Clinically, Pretzel syndrome is characterized by severe, intractable epilepsy. Because the disorder is linked to mTOR pathway dysfunction, a small study showed that early treatment with the mTOR inhibitor rapamycin (sirolimus) was effective in preventing seizures in children with the condition, suggesting a targeted therapeutic strategy.
Do Amish have social security numbers?
While members of Old Order Amish and Mennonite communities often hold religious beliefs that prohibit them from participating in the Social Security system, many do have social security numbers. The Virginia DMV's study on issuing identification cards without a photograph confirms that applicants from these communities are still required to provide proof of a social security number. To be exempt from paying into Social Security, members can file an IRS Form 4029, an application which is officially processed and approved by the Social Security Administration itself. Therefore, even when exempting themselves from the benefits and tax obligations of the program, they must still obtain and present a social security number for other official purposes like state identification.
What are the symptoms of Amish lethal microcephaly?
Amish lethal microcephaly is a condition characterized by a specific and severe set of symptoms that are present from birth. The primary feature is severe congenital microcephaly, where an infant is born with a head circumference significantly smaller than average for their age and gender. This is accompanied by profound developmental delays, affecting both cognitive and motor skills. Individuals with this condition also typically experience seizures and a distinct metabolic abnormality called 2-oxoglutaric aciduria, which is the presence of excess 2-oxoglutaric acid in the urine. Due to the severity of these symptoms, the condition often leads to premature death.
