AwadK_gtms+Neurofibromatosis+1

Neurofibromatosis 1 (NF1) Neurofibromatosis 1 is a disorder. Noncancerous tumors form around the skin, in the brain, in the nervous system, and other parts of the body. The tumors are called neurofibromas. A mutation in the NF1 gene causes a protein called neurofibromein to stop regulating another protein called ras. Ras divides cells. Ras becomes more active when the neurofibromas cannot regulate it. The cells continuously divide and cause the tumors.
 * Description: **

Half of the cases are inherited by a parent. The child needs only one copy of the gene to inherit it. When one parent has the gene, the parent has a fifty-fifty chance of getting the disorder. That’s not always the case. Other times, the gene develops on its own, while the embryo develops.
 * Inheritance: **

Most people have freckles and spots that are the color of coffee mixed with milk called café au lait (it’s French). More appear as the person gets older. There are also numerous tumors throughout the body. These tumors usually aren’t cancerous, but they can be. Sometimes, the person could have high blood pressure, bone defects, scoliosis, and growths on the iris of the eye, and tumors where the eye and brain connect.
 * Symptoms: **

Kids begin getting learning disabilities in elementary school. The child would be put in a special class. As the child goes through changes, NF1 does too. It changes and grows along with the child. The physical symptoms increase as well.
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 * Diagnosis: **

Doctors diagnose people by the café au lait spots. The spots appear during the first two years of life. The person could also be diagnosed be the family history of the disorder, or genetic testing. Genetic testing usually isn’t necessary. Normally, genetic testing is done if another family member has the mutation.


 * Treatment: **

Diseases like cancer can be treated with chemotherapy. However, this disorder has no treatment, nor cure. Surgery can be done to remove tumors and fix bone defects. If the tumors are cancerous, they are removed and the person is treated with chemotherapy, as mentioned before.

Research discovered that other genes can cause NF1. Current research is looking to find out how the tumors also cause nerves to form incorrectly and cause learning disabilities. Current research is also trying to understand how the brain functions with NF1 so they cam understand the specific learning disabilities the child has and help them learn early. Research is also starting to discover how ras are controlling the tumors. If scientists understand this, they might be able to create a medicine that can replace the missing neurofibromas and make the cells form correctly.
 * Research: **

Neurofibromatosis 1 is also known as Von Recklinghausen’s disease. It is one of the most common disorders caused by one gene known worldwide. There is no way to prevent it. Being a boy or girl doesn’t affect the chance of the offspring getting the disorder.
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<span style="color: blue; font-family: Arial,sans-serif; font-size: 10pt;">Pub Med Health