Tuberous Sclerosis A Rare Disease Research Proposal

Tuberous Sclerosis A Rare Disease - inquiry Proposal ExampleDefinition of Tuberous Sclerosis Tuberous Sclerosis is one of the brokertic and exalted disorders cosmos closely monitored and evaluated by the Office of Rare Diseases Research (ORDR) under the National Center for move Translational Sciences (ORDR, 2009). It was thereby defined as a genetic disorder characterized by the growth of legion(predicate) noncancerous (benign) tumors in many parts of the body (ORDR, 2009, par. 1). The definition provided by the National Institute of Neurological Disorders and Strokes (NINDS) much comprehensively identified the affected parts of the body, to wit Tuberous sclerosis--also called tuberous sclerosis complex (TSC) - is a high-flown, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital variety meat such as the kidneys, heart, eyes, lungs, and fight. It usually affects the central nervous system and results in a combination of symptoms inc luding seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease (NINDS, 2012, par. 1). Both definitions classify this disorder as genetic and manifested through multiple growths of specifically identified tumors in different parts of the body. Causes Since the disease is classified under genetic and rare disorder, its cause is thereby traced through inheritance (PubHealth Med, 2010). As disclosed, changes (mutations) in two genes, TSC1 and TSC2, are responsible for nearly cases of the condition. Only one parent needs to pass on the mutation for the child to get the disease. However, around cases are due to new mutations, so there usually is no family history of tuberous sclerosis (PubHealth Med, 2010, pars. 2 & 3). This means that although most cases have identified the cause to be directly handed to the sibling from even one parent, there have been cases where both parents did not carry a defective gene but new mutations were manifested. Known t hrough a process called gonadal mosaicism. These patients have parents with no obvious defects in the two genes that cause the disorder. Yet these parents can have a child with TSC because a grant of one of the parents reproductive cells (sperm or eggs) can contain the genetic mutation without the other cells of the body being involved (NINDS, 2012, par. 8). Symptoms The symptoms for this illness were categorized into three skin symptoms, brain symptoms,and other symptoms, and are hereby luxuriant as follows (1) skin symptoms embroil areas of the skin that are white (due to decreased pigment) and have either an ash tree leaf or confetti appearance red patches on the face containing many blood vessels (adenoma sebaceum) and raised patches of skin with an orange-peel texture (shagreen spots), often on the back (2) brain symptoms include developmental delays, mental retardation, seizures and (3) other symptoms include pitted tooth enamel, rough growths under or around the fingernai ls and toenails, rubbery noncancerous tumors on or around the dialect (PubHealth Med, 2010). Genetic Make-Up The explanation provided by Howell (n.d.) on the genetic analysis of this illness clearly and explicitly illustrated the mutation in one of two identified genes, the TSC1 gene is located on chromosome 9q34 and the TSC2 gene on chromosome 16p13 (Howell Gene Analysis, n.d, par. 1). The illustrations are hereby presented as