Genetics+Disorder+Wiki+MC

=NEUROFIBROMATOSIS TYPE 1 (NF1)=
 * 1) What is Neurofibromatosis Type 1 (NF1)? [[image:nf1chrom.jpg width="167" height="179" align="right"]]
 * Disorder caused by the spread of neurofibromas ( noncancerous tumors)
 * Tumors form under skin, in the brain, and nervous system. It can get in smaller parts of the body such as the eye, for example.
 * Mutation in gene on chromosome 17. The gene has protein called neurofibromin.
 * Neurofibromin controls another protein called ras. ( ras helps the division of cells )
 * Outcome: ras protein is more active.
 * Cells divide and never stop, causing many tumors to develop.

2. How is NF1 Contracted?
 * Inherits gene from parent
 * Simply just one mutated gene has to be inherited for the child to contract this disorder with a 50% chance. [[image:autosomaldominant.jpg width="173" height="377" align="right"]]
 * Sometimes, there's no history of the disease in the person's family
 * Sometimes occurs when embryo is being developed.
 * If mutation is present int he egg or sperm, parents pass it on to the embryo.

3. Symptoms?
 * Distinctive café au lait spots the color of coffee, or maybe even freckles
 * Some people may have high blood pressure, bone defects, scoliosis, learning disabilities, Lisch nodules, and optic gliomas.
 * "Modifier Genes" or the genetic makeup from parents and so forth.

4. How is is diagnosed?
 * physical symptoms and family history
 * Putting the NF1 gene in order to discover gene mutations

5. How is is treated?
 * Unfortunately there is no cure or treatment for this particular disorder, but there are many surgeries that can be done to get the cancerous tumors out of the body. You can also go through chemotherapy or radiation just to simply kill off the cancer cells.