Tuberous Sclerosis A Rare Disease - Research Proposal Example

Definition of Tuberous Sclerosis Tuberous Sclerosis is one of the genetic and rare disorders being closely monitored and evaluated by the Office of Rare Diseases Research (ORDR) under the National Center for Advancing Translational Sciences (ORDR, 2009). It was thereby defined as “a genetic disorder characterized by the growth of numerous 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) more comprehensively identified the affected parts of the body, to wit: “Tuberous sclerosis--also called tuberous sclerosis complex (TSC) - is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.

It usually affects the central nervous system and results in a combination of symptoms including 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 most cases of the condition. Only one parent needs to pass on the mutation for the child to get the disease. However, most 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 through a process called “gonadal mosaicism. These patients have parents with no apparent defects in the two genes that cause the disorder. Yet these parents can have a child with TSC because a portion of one of the parent's 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 detailed as follows: (1) skin symptoms include: areas of the skin that are white (due to decreased pigment) and have either an ash 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 fingernails and toenails, rubbery noncancerous tumors on or around the tongue (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