Tay-Sachs Disease

Filho, Jose Americo Fernandes; Shapiro, Barbara E.

doi:10.1001/archneur.61.9.1466

Cited by 65 publications

(47 citation statements)

References 37 publications

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“…Tay Sachs disease is a disorder causing progressive neurological deterioration after 6 months of age, with severe epilepsy, cognitive decline and death in the second year. 44 Lesch-Nyhan syndrome is an inherited disorder of amino acid metabolism that leads to severe physical and intellectual disability, with spastic Benefits Burdens Figure 1 Assessing the best interests of an infant. What is the balance of benefits and burdens in the infant's future life?…”

Section: Increase In Burdensmentioning

confidence: 99%

Is it in the best interests of an intellectually disabled infant to die?

Wilkinson¹

2006

J Med Ethics

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One of the most contentious ethical issues in the neonatal intensive care unit is the withdrawal of life-sustaining treatment from infants who may otherwise survive. In practice, one of the most important factors influencing this decision is the prediction that the infant will be severely intellectually disabled. Most professional guidelines suggest that decisions should be made on the basis of the best interests of the infant. It is, however, not clear how intellectual disability affects those interests. Why should intellectual disability be more important than physical disability to the future interests of an infant? Is it discriminatory to base decisions on this? This paper will try to unravel the above questions. It seems that if intellectual disability does affect the best interests of the child it must do so in one of three ways. These possibilities will be discussed as well as the major challenges to the notion that intellectual disability should have a role in such decisions. The best interests of the child can be affected by severe or profound intellectual disability. It is, though, not as clear-cut as some might expect.

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Section: Increase In Burdensmentioning

confidence: 99%

Is it in the best interests of an intellectually disabled infant to die?

Wilkinson¹

2006

J Med Ethics

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“…Today, the carrier frequency of Tay -Sachs disease is on the order of 1 in 30 in self-identified Ashkenazi Jews, 10 times higher than in other populations. Before widespread population carrier screening of this disorder, 1 in 3600 children born to Ashkenazi parents had Tay-Sachs disease (Fernandes Filho and Shapiro 2004;Bray et al 2010). Screening has since reduced TaySachs births among Ashkenazim by some 90% (Ostrer and Skorecki 2013).…”

Section: Mendelian Mutations Are Highly Population Specific For a Nummentioning

confidence: 99%

Personalized Medicine and Human Genetic Diversity

Goldstein

Angrist

et al. 2014

Cold Spring Harbor Perspectives in Medicine

151

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Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the rare and common mutations implicated in human disease susceptibility, and the relevance of genetic diversity to personalized medicine. First, we describe the development of thought about diversity through the 20th century and through more modern studies including genome-wide association studies (GWAS) and next-generation sequencing. We introduce several examples, such as sickle cell anemia and Tay-Sachs disease that are caused by rare mutations and are more frequent in certain geographical populations, and common treatment responses that are caused by common variants, such as hepatitis C infection. We conclude with comments about the continued relevance of human genetic diversity in medical genetics and personalized medicine more generally. W e all differ at the level of our DNA sequence, and geneticists obsess over trying to understand the significance of this genetic diversity. This is an important goal, as by understanding human genetic diversity we can learn about the evolutionary history of our species, where we have come from, and perhaps where we are headed. More practically, understanding human genetic diversity is essential to understanding the biology of our diseases of various kinds, from the genetically more simple to more complex, and how we respond to treatment at both the population and individual levels (Torkamani et al. 2012). Indeed, improving our knowledge of human disease biology is the primary driver behind the largest and most systematic studies of human genetic diversity today. These studies, and the population-and disease-specific investigations made possible by them, are essential for reducing health disparities and improving health outcomes for the species as a whole. Unfortunately, largely because of which DNA samples are most easily accessible, most genomics research programs have concentrated their discovery efforts in populations of

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“…The sphingolipidoses: Tay-Sachs disease and modeling in mouse, a cautionary tale Tay-Sachs disease is an autosomal recessive disorder of the nervous system caused by mutations in the HEXA gene, resulting in the lowered levels or absence of the lysosomalresident enzyme, hexosaminidase A (for reviews, see Mahuran and Gravel 2001;Fernandes Filho and Shapiro 2004). This enzyme is responsible for the catabolism of the glycosphingolipid, GM2.…”

Section: The Sphingolipidosesmentioning

confidence: 99%

Invertebrate models of lysosomal storage disease: what have we learned so far?

2011

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The lysosomal storage diseases (LSDs) collectively account for death in 1 in 8,000 children. Although some forms are treatable, they are essentially incurable and usually are lethal in the first decade of life. The most intractable forms of LSD are those with neuronal involvement. In an effort to identify the pathological signaling driving pathology in the LSDs, invertebrate models have been developed. In this review, we outline our current understanding of LSDs and recent findings using invertebrate models. We outline strategies and pitfalls for the development of such models. Available models of LSD in Drosophila and Caenorhabditis elegans are uncovering roles for LSD-related proteins with previously unknown function using both gain-of-function and loss-of-function strategies. These models of LSD in Drosophila and C. elegans have identified potential pathogenic signaling cascades that are proving critical to our understanding of these lethal diseases.

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Tay-Sachs Disease

Cited by 65 publications

References 37 publications

Is it in the best interests of an intellectually disabled infant to die?

Is it in the best interests of an intellectually disabled infant to die?

Personalized Medicine and Human Genetic Diversity

Invertebrate models of lysosomal storage disease: what have we learned so far?

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