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Neurofibromatosis

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on 13 December 2013

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Transcript of Neurofibromatosis

Current Direction of Research
If Neurofibromatosis is identified early enough, Doctors can treat the tumors if they become cancerous. Currently, doctors are focusing their research on trying to isolate the part of the 17th chromosome that causes neurofibromatosis. Once they isolate the gene, scientists will be able to figure out how to best approach preventing the disease.
Cell Signaling Pathway
The cell pathway affected in nerofibromatosis is the peripheral nervous system. This system connects the central nerves to limbs and organs. It sends communication signals from the brain to extremities.
Bronner-Fraser, M. "Neural Crest cell formation and migration in the developing embryo ." Abstract. 1994.

Gal, Persian Poet. A Diagram of the Human Nervous System. 2006. Graphic. WikipediaWeb. 10 Dec 2013.

Neurofibromatosis Type 1. 2013. Photograph. Learn.Genetics, Salt Lake City. Web. 9 Dec 2013. <http://learn.genetics.utah.edu/content/disorders/whataregd/nf1/images/nf1chrom.jpg>.

other cell signaling pathways activated by NF1. N.d. Photograph. GIST SupportWeb. 9 Dec 2013. <http://www.gistsupport.org/media/What is Gist/LeParada600pix.jpg>.
Neurofibromatosis

Correct Mechanism
The main function of the peripheral nervous system is to connect the central nervous system to the limbs and organs. It essentially serves as a communication relay going back and forth between the brain and the extremities.Neural crest cells set up the ganglia and pigment cells in the embryo.
Incorrect Mechanism
It begins with a deformity in the 17th Chromosome. This deformity leads to incorrect formation of neural crest cells in the embryo. This leads to abnormalities in the peripheral nervous system. This causes things like tumors as well as hearing and sight problems, both of which are affected by the peripheral nervous system.
Causes and Core Symptoms
Causes:
It is believed that neurofibromatosis is caused by deformities in the Neural Crest Cells. Neural crest cells are formed in the embryo and develop into the peripheral nervous system, the facial skeleton, and pigment cells.


Symptoms:
There are three types of neurofibromatosis, all with different symptoms.
NF1: Light Brown Spots on skin
Soft bumps on skin
tiny bumps on the iris of the eye
Bone Deformities
NF2: Gradual hearing loss
Ringing in the ears
poor balance
Schwannomatosis: The rarest form of the disease.
Painful tumors that develop on nerves
Graphics of Pathway
Alyssa Clay, Anna Loncar, and Jessica Bowen
AP Biology
2nd period
Full transcript