Medical Genetic Research on the Amish: From Genetic Tourism to Community Health Centers

Abstract

In the 1960s, Victor McKusick inaugurated the Amish medicalgenetic tourist research program in order to learn moreabout the relationship between genes and human disease.However, Amish mistrust of outsiders and frustration at beingexploited by tourism, as well as other cultural and historicalfactors, would ultimately result in the transformation of medicalgenetic research paradigms from genetic tourism to communityhealth centers. Over time, Amish community healthclinics, partially funded by the Amish themselves, were establishedin Pennsylvania and Ohio. These clinics, which are longtermcenters dedicated to primary care and advanced medicalgenetic research, give the Amish a sense of agency. Doctorsfrom these clinics have achieved numerous medical breakthroughsthat were possible only as a result of their long-termcare of patients. This transition to Amish community healthclinics illustrates the successes science and medicine canachieve when they are sensitive to unique population needs.

Systemic deficiency of GM1 ganglioside in Parkinson’s disease tissues and its relation to the disease etiology

“…Although one such study described this as a relatively mild disorder, the other two described it as complex hereditary spastic paraplegia. This condition, along with mutations in St3gal5 (GM3 synthase) occurs sporadically but is especially prevalent in the Amish community, which has been reported to have one of the world's highest incidences of PD [56,57]. The latter may be related to the likelihood of GM1 deficiency in first degree relatives of the afflicted children, and such relatives would be heterozygous carriers of GM1 deficiency.…”

Reviving the Demographic Study of the Amish

“…Such studies success gather data since they tap into the Amish desire to help others and because of indirect returns in the form of medical assistance (e.g. finding treatments for rare genetic disorders) (Armer and Radina 2006;Tell 2012). While health studies and demography have much overlap-especially in the study of morbidity-the ways a demography study are helpful and provide returns to the Amish are less easily articulated.…”

Synthetic GM1 improves motor and memory dysfunctions in mice with monoallelic or biallelic disruption of GM3 synthase

“…Primary among the latter is PD shown to be characterized by neuronal pathologies due to subnormal GM1 in both the central nervous system (CNS) and peripheral nervous system (PNS) [ 26 , 27 ] as well as non‐neuronal cells [ 28 ]. This in turn correlates with the fact that Old Order Amish communities, a major repository of persons with disrupted ST3GAL5 [ 14 ] also manifest the highest PD incidence in the world [ 29 ]. This suggests the potential advantage of monitoring those parents and close relatives for early detection of PD (prodromal stage) with corresponding therapeutic advantages.…”

“…The principal features in children with this relatively rare autosomal recessive condition include intellectual disability, early‐onset choreoathetosis, visual and hearing impairments, failure to thrive, and cutaneous dyspigmentation [ 5 , 13 ]. It occurs most prevalently in Old Order Amish communities [ 14 ] but in non‐Amish patients as well [ 15 ]. Gene modification is an obvious therapeutic approach [ 16 ] but ganglioside replacement therapy in which patients are administered one or more of the missing gangliosides deemed most essential for neuronal function is also worthy of consideration.…”