Fatal Familial Insomnia (FFI) is a genetic sleep disorder that has been diagnose

Question

Fatal Familial Insomnia (FFI) is a genetic sleep disorder that has been diagnosed in less than 40 families worldwide. FFI begins as unexplained sleeplessness during middle age and rapidly develops into a fatal insomnia. FFI resembles many common diseases such as dementia, end-stage alcoholism and encephalitis. The inability to sleep causes high pulse and blood pressure, panic attacks, excessive sweating, hallucinations, devastating insomnia leading to dementia. From diagnosis to death takes about 12 months.

Outline three experimental strategies that could be used to understand the basis of the disease.

Explanation / Answer

Aim 1: identify genetic basis - generate animal model - this is the key experiment. Recessive/dominant? chromosome ? gene? gene knockout/ overexpression model ? measure sleep / blood pressure interaction [this
might be limited by funds]

Aim 2: study impact of existing sleep-inducing medications - epidemiologicalapproaches have been helpful in other neurological diseases, and this might not be as expensive as

Aim 3: the effects on sleep patterns, blood pressure and phobias might suggest a role for amines, test by measuring their levels in patientsand impact of aminergic drugs(prozac) This is a good plan, as it involves the patients in their own search for a cure.

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