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The Variability of Genetic Disease
New England Journal of Medicine, 2012It is never boring to be a physician because patients are so different. Each patient has a story to tell, and few have disorders that match textbook descriptions. By the same token, we need to be careful when predicting the future for our patients, and finding the appropriate therapy is often a matter of trial and error as much as science and protocol.
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The Genetics of Crohn's Disease
Annual Review of Genomics and Human Genetics, 2009From epidemiological data, based on concordance data in family studies, via linkage analysis to genome-wide association studies, we and others have accumulated robust evidence implicating more than 30 distinct genomic loci involved in the genetic susceptibility to Crohn's disease (CD).
Johan, Van Limbergen +2 more
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The genetics of Alzheimer's disease
Progress in Neurobiology, 1997Alzheimer's disease (AD) is the major cause of dementia in the U.K. The clinical diagnosis of the specific disease resulting in dementia is unreliable and thus a definitive diagnosis of AD is best made in conjunction with post-mortem findings of amyloid plaques and neurofibrillary tangles. Alzheimer's disease is neuropathologically indistinguishable in
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Current Opinion in Pediatrics, 1998
Many genetic renal disease now have specific genetic definitions, allowing prognostication. Several glomerular basement membrane defects include Alport's syndrome and benign familial hematurias. Genetic tubular or interstitial structural defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases.
P, Saborio, J, Scheinman
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Many genetic renal disease now have specific genetic definitions, allowing prognostication. Several glomerular basement membrane defects include Alport's syndrome and benign familial hematurias. Genetic tubular or interstitial structural defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases.
P, Saborio, J, Scheinman
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The Genetics of Alzheimer’s Disease
2007Publisher Summary This chapter emphasizes that Alzheimer's disease (AD) is the most common form of age-related dementia and is characterized by progressive and insidious neurodegeneration of the central nervous system eventually leading to a gradual decline of cognitive function and dementia. Despite the great progress in the field of AD genetics that
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Genetics of Cardiovascular Disease
Circulation, 2000Fifty years ago, cardiovascular genetics simply did not exist. Genetics was a nascent field of basic research, with little apparent relevance to cardiovascular science or any other medical subspecialty. Today, cardiovascular genetics is a discipline that fully integrates high-technology laboratory investigation and clinical medicine.
D M, Milewicz, C E, Seidman
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Current Opinion in Neurology, 1994
The study of genetic hearing loss has always been hindered by the difficulty of separating sporadic genetic cases from cases affected by environmental influences. This is because audiologic methods are largely insensitive to causes, and the anatomical location of the affected structures in the middle and inner ear makes histopathologic verifications ...
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The study of genetic hearing loss has always been hindered by the difficulty of separating sporadic genetic cases from cases affected by environmental influences. This is because audiologic methods are largely insensitive to causes, and the anatomical location of the affected structures in the middle and inner ear makes histopathologic verifications ...
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Mitochondrial Genetics and Disease
Journal of Child Neurology, 2014Mitochondrial disease resulting in reduced bioenergetic output can be due to mutations in either nuclear DNA–encoded or mitochondrial DNA–encoded gene products. We summarize some of the underlying principles of mitochondrial genetics that impact the diagnosis and pathogenesis of mitochondrial disorders. In addition, we present a brief overview of a new
Estela, Area-Gomez, Eric A, Schon
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