Genetics: What is Turner's Syndrome?
By: Amelia Emery
Turner syndrome is a genetic disorder caused by the loss, or monosomy, of one of the X chromosomes. This loss of a chromosome results in an individual with only 45 chromosomes. Individuals with Turner syndrome are always female as males need an X and a...
By: Dr Pandula Siribaddana
As the name suggest, desmosterolosis is a rare genetic disorder which has been documented in only few instances as a medical disorder. This has lead to a vacuum of knowledge in relation to this disease although the several cases that have been presented can give...
By: Dr Pandula Siribaddana
According to an article published in the European Journal of Human Genetics, the DFNA5 gene was discovered while investigating a Dutch family whom were suffering from a genetically inherited hearing loss which was transmitted as an autosomal dominant trait. Further studies discovered another family in...
By: Alison Bowler
Deafness and hearing loss have many different causes including infection, traumatic injury and genetic makeup. With increased knowledge of the human genome, it is becoming possible to identify specific genes involved in such conditions. One of the genetic causes is a change in the coding...
By: Dr Pandula Siribaddana
Dagfinn Aarskog is a Norwegian pediatrician and a geneticist who described a syndrome characterized by short stature and abnormalities related to facial, genital and skeletal systems. The syndrome is considered to be a rare genetic disease and had been found to inherit as an x&mdash...
By: Dr Pandula Siribaddana
Aase-smith syndrome is a rare genetic disorder thought to be inherited as an autosomal recessive disease. This would mean that both parents should carry a single recessive gene each which can give rise to the disease, once they become a pair in the affected children...
By: Julie Thomas-Zucker
Waardenburg syndrome is a genetic disease that causes deafness, pale skin, eye color, and hair. The syndrome requires only one faulty gene, usually PAX3 or MITF. Genes EDNRB and EDN3 cause the less common Klein-Waardenburg, Waardenburg-Shah types. PAX3 controls facial and inner ear development. MITF...
By: Matilda Willows
Aagenaes syndrome, which is also called cholestasis-lymphedema syndrome (or CLS), is listed as a "rare genetic disease" by the Office of Rare Diseases (ORD) from the National Institutes of Health (NIH). A rare disease is often deemed as such if it affects one person per...
Rare genetic diseases: An overview of desmosterolosis
By: Julie Thomas-Zucker
Desmosterolosis causes accumulation of the protein desmosterol in the blood, tissues and cultured cells. It is a disorder having to do with recessive chromosomes. A lack of the 3betahydroxysterol-delta24-reductase is the cause of this disease. Doctors find it in the cholesterol biosynthetic pathway. It is...
By: Leigh Goessl
The Black Death was one of the worst plagues to affect humans in global history, and scientists have long been trying to figure out how a bacteria could cause so many deaths back in the 14th century. Also known as the Bubonic Plague, this disease...

 

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