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Clinical aspects and diagnosis

J. Edmond Wraith

in Lysosomal Disorders of the Brain: Recent Advances in Molecular and Cellular Pathogenesis and Treatment

Published in print:
2004
Published Online:
September 2009
ISBN:
9780198508786
eISBN:
9780191723803
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780198508786.003.0003
Subject:
Neuroscience, Disorders of the Nervous System

The lysosomal storage disorders, like many other metabolic and genetic diseases, show a remarkably variable clinical phenotype. In some patients, the presentation may be in the neonatal period with ... More


When the Wall Comes Tumbling Down: Primary Immune Deficiency Diseases

William R. Clark

in In Defense of Self: How the Immune System Really Works

Published in print:
2008
Published Online:
September 2008
ISBN:
9780195336634
eISBN:
9780199868568
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195336634.003.0009
Subject:
Biology, Disease Ecology / Epidemiology

AIDS provides an example of destruction of the adaptive immune system by an external agent, HIV. But immune function can also be disrupted by natural mutations in any of the hundreds of genes that ... More


Tay–Sachs disease

Feige Kaplan and Charles R. Scriver

in Antenatal and Neonatal Screening

Published in print:
2000
Published Online:
September 2009
ISBN:
9780192628268
eISBN:
9780191723605
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780192628268.003.0006
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter describes screening for Tay–Sachs disease (TSD) in pregnancy. TSD is an example of a fatal metabolic genetic disease which is rare but for which it is realistic to screen because cases ... More


Are Pre-existing Condition Exclusion Clauses Just?: Lessons from Causal and Ethical Considerations Regarding Genetic Testing

Robert T. Pennock

in Medicine and Social Justice: Essays on the Distribution of Health Care

Published in print:
2012
Published Online:
May 2015
ISBN:
9780199744206
eISBN:
9780190267551
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:osobl/9780199744206.003.0033
Subject:
Philosophy, Moral Philosophy

This chapter examines the health care reform issue with significant public support: the prohibition on denying coverage for preexisting conditions, especially those identified by genetic testing. The ... More


Gene therapy: With Stacey Efstathiou

James W. Fawcett, Anne E. Rosser, and Stephen B. Dunnett

in Brain Damage, Brain Repair

Published in print:
2002
Published Online:
March 2012
ISBN:
9780198523376
eISBN:
9780191724534
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780198523376.003.0026
Subject:
Neuroscience, Techniques

Genetic engineering may be defined as the development of techniques to manipulate the genotype of cells or organisms in order to modify their phenotype. Gene therapy is the use of those techniques to ... More


Causation, Causal Selection, and Causal Parity: What Genes Can (and Can’t) Do

Anya Plutynski

in Explaining Cancer: Finding Order in Disorder

Published in print:
2018
Published Online:
August 2018
ISBN:
9780199967452
eISBN:
9780190878474
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780199967452.003.0004
Subject:
Philosophy, Philosophy of Science

It is typical to refer to cancer as a “genetic” or “genomic” disease. This claim is ambiguous; one of the central goals of this chapter is to disambiguate this claim. I first distinguish different ... More


Improving Population Quality

Ayo Wahlberg

in Good Quality: The Routinization of Sperm Banking in China

Published in print:
2018
Published Online:
September 2018
ISBN:
9780520297777
eISBN:
9780520969995
Item type:
chapter
Publisher:
University of California Press
DOI:
10.1525/california/9780520297777.003.0003
Subject:
Anthropology, African Cultural Anthropology

Beyond the treatment of infertility, donor sperm is also made available to couples if the male partner is considered to suffer from a genetic disease and is deemed “not suitable for reproduction” ... More


LavaXLand

Mike Fortun

in Promising Genomics: Iceland and deCODE Genetics in a World of Speculation

Published in print:
2008
Published Online:
March 2012
ISBN:
9780520247505
eISBN:
9780520942615
Item type:
chapter
Publisher:
University of California Press
DOI:
10.1525/california/9780520247505.003.0001
Subject:
Biology, Evolutionary Biology / Genetics

Whether we are looking into Iceland, the United States, or another lava land somewhere in between, a book about promising genomics in the latter years of the twentieth century—a book about ... More


The Canary in the Gemeinschaft?: Disability, Film, and the Jewish Question

Faye Ginsburg

in Deus in Machina: Religion, Technology, and the Things in Between

Published in print:
2012
Published Online:
May 2013
ISBN:
9780823249800
eISBN:
9780823252480
Item type:
chapter
Publisher:
Fordham University Press
DOI:
10.5422/fordham/9780823249800.003.0008
Subject:
Religion, Religion and Society

This chapter explores questions about Judaism, disability, and technology from the vantage point of a group of documentary film-makers and other activists concerned with the place of the physically ... More


Body and Soul: The Black Panther Party and the Fight against Medical Discrimination

Alondra Nelson

Published in print:
2011
Published Online:
August 2015
ISBN:
9780816676484
eISBN:
9781452948164
Item type:
book
Publisher:
University of Minnesota Press
DOI:
10.5749/minnesota/9780816676484.001.0001
Subject:
Sociology, Social Movements and Social Change

Between its founding in 1966 and its formal end in 1980, the Black Panther Party blazed a distinctive trail in American political culture. The Black Panthers are most often remembered for their ... More


Expanded Newborn Screening: Contemporary Challenges to the Parens Patriae Doctrine and the Use of Public Resources

Jeffrey R. Botkin, Rebecca A. Anderson, and Erin Rothwell

in Medicine and Social Justice: Essays on the Distribution of Health Care

Published in print:
2012
Published Online:
May 2015
ISBN:
9780199744206
eISBN:
9780190267551
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:osobl/9780199744206.003.0039
Subject:
Philosophy, Moral Philosophy

This chapter focuses on the practice of newborn bloodspot screening, with particular emphasis on the challenges to the parens patriae doctrine and the allocation of public resources for such ... More


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