Just ten years removed from the sequencing of the entire human genome, we have entered a golden era of genetics. Indeed, genetic discoveries are being made at a furious pace in laboratories throughout the world. Read on to learn about common, important genetic research tools and how they are used.
Uterine cancer strikes nearly 50,000 women and causes nearly 8,000 deaths in the U.S. annually. This article focuses on the Lkb1 and FGFR2 genes, as it is known that a mutation in either one of these genes is a uterine cancer genetic factor.
Cuba is one of the world’s healthiest nations. Unfortunately, however, despite this overall good health, Cubans are not immune from suffering from genetic conditions. This article reviews prevalent genetic abnormalities in Cuban people and also highlights Cuba’s National Genetics Program.
Dent’s disease is a rare kidney disorder that is genetically inherited and causes a number of problems in affected individuals, including increased incidence of kidney stones and sometimes even renal failure. This article provides a review of the gene mutations in Dent’s disease.
Osteogenesis imperfecta type III is a rare, but highly debilitating, genetic disorder that is marked by fairly severe bone defects. Read on to learn about this condition, what is known about its underlying genetic causes and what is being done to develop a method of treating it.
Aarskog-Scott Syndrome is a relatively rare genetic disorder that affects more males than females and leads to multiple developmental defects. This article describes this disorder and its underlying genetic cause.
Vitelliform macular dystrophy is a rare genetic disorder that leads to progressive vision loss and sometimes even almost total blindness. Read on to learn about this inherited disorder and its underlying genetic causes.
Primary carnitine deficiency is an inherited condition that is characterized by the body’s reduced ability to convert fats into energy. Symptoms of this condition are severe and even can be fatal. Read on to learn about this disorder and its underlying genetic cause.
Hereditary hemorrhagic telangiectasia is a disorder that leads to abnormal development of the blood vessels. People who suffer from this condition are prone to bleeding, sometimes which can be life-threatening. Read on to learn more about this serious condition and its underlying genetic causes.
Sandhoff Disease is an inherited disorder of the central nervous system that often results in death in infancy or early childhood. This article describes both this condition and its underlying genetic cause.
Tyrosinemia is a genetic disorder that has three forms. In each form, symptoms can become serious if left untreated. Read on to learn about this inherited condition and its interesting underlying genetic causes.
Citrullinemia is a serious inherited disorder that has two forms, each one of which causes build up of toxins in the blood. Both forms, however, feature different symptoms and are caused by mutations in different genes. Read on to learn about the genetic condition known as citrullinemia.
Isovaleric acidemia is a genetic disorder that prevents the body from properly breaking down ingested proteins. Read on to learn about the life-threatening symptoms that individuals who have this condition sometimes experience and what is known about its underlying genetic cause.
Norrie Disease is a genetic disorder that causes blindness,predominantly in males who are inflicted with it at or near the time of birth. This article describes this rare genetic condition and its underlying genetic cause.
Ellis-van Creveld syndrome is a rare genetic disorder which causes dwarfism and bone problems, among other developmental defects. Read on to learn more about this condition and its underlying genetic cause.
Harlequin ichthyosis is an inherited skin disorder that is often lethal and always very debilitating. Read on to learn more about this rare genetic condition and its underlying genetic cause.
Weaver Syndrome is a very rare growth and development disorder that has an underlying genetic cause in at least some of its sufferers. Read on to learn more about this interesting disorder and its genetic cause that is seen in some affected individuals.
Fuchs’ Dystrophy is a severe eye disorder that has a genetic basis in many, and perhaps all, of those who are inflicted with it. Read on to learn about this disorder, what its sufferers can do to prevent from going blind or nearly blind, and its underlying genetic cause in some affected individuals.
Can you imagine what it is like to not be able to feel any pain whatsoever? Those who are inflicted with congenital pain insensitivity can, as they do not experience pain at all. Read on to learn about this unusual condition and what is known about its underlying genetic cause.
Nasa-Hakola disease is a rare genetic condition that devastates the brain and skeletal system and almost always leads to premature death. Read on to learn more about this troubling disorder and its underlying genetic causes.