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...
Function and structure of the amygdala in humans
By: Dr. Bryan Katz
The term amygdala refers to a bilateral cluster of nuclei located deep in the brain's temporal lobes. The word amygdala itself is derived from the Greek word for almond. Apparently, the shape of these neuronal clusters vaguely resembles an almond, at least in the eyes...
By: Terrence Aym
In a potential breakthrough for future treatment of humans suffering brain damage, scientists at Tel Aviv University have implanted a computer chip into a living brain restoring motor function signals.The research team was led by Matti Mintz who told New Scientist: “It’s...
By: Dr. Bryan Katz
The term long term potentiation, or LTP, refers to a strengthening of synaptic connections between two neurons following intense, repetitive stimulation of the presynaptic neuron. Most neuroscientists think this process plays a fundamental role in learning and memory at the cellular level. This article will...
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...
What to take to hospital when you're having surgery
By: Shannon Lawrence
Surgery is a stressful prospect, but with the right preparation in advance, some of the weight can be taken from your shoulders. Whether your surgery is inpatient or outpatient, it's a good idea to have a pre-packed bag that contains your necessary items, along with...
By: Dr Pandula Siribaddana
Encephalitis is the inflammation taking place in the brain and is often due to a viral infection. The condition is considered a serious illness although with early treatment and proper management, many do not develop long-term or residual effects following the disease. In fact, many...

 

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