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What is Loeys-Dietz Syndrome?
By: Alicia M Prater PhD
Loeys-Dietz syndrome (LDS) is a genetic disorder named after Dr. Bart Loeys and Dr. Hal Dietz at Johns Hopkins University School of Medicine. They were the first to describe the disorder in 2005. Because it is a newly recognized disorder and no two patients have...
What are nuclear envelopathies?
By: Alicia M Prater PhD
The nuclear envelope is an important structure in the eukaryotic cell. It not only partitions the nucleus from the rest of the cell, but it has also been found in recent years to be involved in mitotic processes. The nuclear envelope is composed of the...
What is von Hippel-Lindau disease?
By: Alicia M Prater PhD
Von Hippel-Lindau disease is a traditionally rare genetic disorder with an estimated incidence of approximately 1 in every 36,000 people according to Genetics Home Reference. The disorder affects cell growth, especially the growth of blood vessels. Mutations in the tumor suppressor gene VHL on...
The effects of sex polysomies on anatomy
By: Alicia M Prater PhD
Sex polysomies are the presence of more than two sex chromosomes in an individual’s genome. The normal genotypes are 46XX, female and 46XY, male. The number refers to the number of chromosomes in the genome, with X and Y as the sex chromosomes (Y...
Chromosomal abnormalities: Monosomy 9p
By: Alicia M Prater PhD
Chromosomal abnormalities range from the loss or addition of an entire chromosome to variations in smaller portions of the genetic sequence on a particular chromosome. The risk of chromosomal abnormalities increases with maternal age, probably due to the processes involved in oocyte maturation. Monosomy is...
What is de novo copy number variation (CNV)?
By: Alicia M Prater PhD
The human genome is incredibly diverse and each individual's genome includes a number of repetitive elements. A specific type of repetitive sequence is copy number variation (CNV). CNV was defined in 2006 by Redon et al. in the journal Nature as the presence of variable...
An overview of genetic testing for clopidogrel responsiveness
By: Alicia M Prater PhD
Responsiveness to clopidogrel, sold under the brand name Plavix, is an issue for some patients who undergo anti-platelet treatment to prevent heart attack and stroke. Particularly susceptible are patients who receive the drug to prevent clotting and embolism after coronary stenting. Approximately 30 to 40...
An overview of genetic testing for cardiovascular disease risk
By: Alicia M Prater PhD
Cardiovascular disease affects millions of people worldwide, accounting for 30 percent of global deaths in 2008 according to the World Health Organization (WHO), most due to coronary artery disease and stroke. According to the Centers for Disease Control, heart disease, particularly coronary artery disease, is...
An overview of genetic tests for breast cancer risk
By: Alicia M Prater PhD
One in eight women will be diagnosed with breast cancer in their lifetime according to the National Library of Medicine. Though the risk of developing tumors in the breast is associated with hormone or radiation exposure, alcohol use and other environmental toxicities, genes appear to...
The association between PON-1 and clopidogrel responsiveness
By: Alicia M Prater PhD
Clopidogrel is the generic name for an anti-platelet drug used to prevent heart attack and stroke. It is sold under the brand name Plavix. In order for the drug to work, it must be metabolized in the body. Metabolic enzymes are encoded by genes, making...

 

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