Why some people are left handed
By: Alicia M Prater PhD
Scientists have determined that whether a person uses their right or left hand to perform tasks is based on the asymmetrical development of the brain during embryogenesis. Handedness is based on hand dominance, as in the brain favors one hand over the other. The idea...
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...
What does an endocrinologist do?
By: Linda L Kinyon
An endocrinologist is a highly trained doctor trained in treating diseases and conditions of the endocrine system. The endocrine system is a complex group of glands that create hormones that regulate our bodies in production of sugars, enzymes, hormones, reproduction, growth and development and more...
Common birth defects of the female anatomy
By: Alicia M Prater PhD
Birth defects occur for a number of reasons, though they are most often influenced in the first trimester of pregnancy. The Centers for Disease Control and Prevention (CDC) in the United States estimates that every one in 33 babies is born with some form of...
Vitelliform macular dystrophy (Best disease): Causes, symptoms and treatment
By: Alicia M Prater PhD
Best disease is a genetic disorder known more formally as early onset vitelliform macular dystrophy. It is a rare autosomal dominant disorder first described in 1905 by a German ophthalmologist, Dr. Franz Best. Vitelliform means “egg-like,” which describes the yolk-like appearance of the...
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...

 

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