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Congenital Anosmia

Gene Therapy!

Savannah Buist

on 8 April 2013

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Transcript of Congenital Anosmia

Congenital Anosmia seavé Buist What is it? Congenital Ansomia is the lack of sense of smell at birth. Scientists are still unsure how it comes about, but many believe it is the mutation of the IFT88 gene on Chromosome 13. What are the causes? Because of patterns in family history revealing the repetition of anosmia in several forms, many conclude that it follows the autosomal dominant pattern. Is there any cure? Ciliopathy is the restoration of the cilia, which are hair-like membranes used in the kidney and in the nose. In the nose (the topic of our discussion), they form a sheet called the olfactory epithelium. The olfactory epithelium is made up of several different kinds of cells, including the cilia, which act as receptors. Without the production of cilia, there would be no way to receive incoming scents and smells. Regenerative Cilia Testing, Yay!!!! Testing has gone about, in which an adenovirus is used to implant an IFT88 gene. The IFT88 gene is responsible for the production of cilia in the kidneys and the nose. This implantation successfully restored sense of smell in lab mice on September 2nd, 2012, at University of Michigan. What are the risks? Although the prospect of the restoration of smell is exciting, it does come with risks. Although the cilia may be restored, it is unclear whether or not that actually translates to the olfactory neurons. However, scientists of UofM are hopeful that one day they may develop gene therapy in the form of a nasal spray. Some even hope that this therapy will translate to kidney failure and blindness. OVERALL. Overall, there is a long way to go to reverse the effects of congenital anosmia, but recent testing provides hope. Works Cited http://en.wikipedia.org/wiki/Anosmia
http://www.scoop.it/t/amazing-science/p/2581397016/can-t-smell-anything-gene-therapy-targeting-ift88-corrects-congenital-anosmia-in-mice?tag=genomics The cure is implanted in the process of injection of the common cold loaded with the normal DNA sequence, allowing the normal IFT88 to reproduce. After 14 days of the three day treatment, a test was conducted on mice and revealed that at the scent of amyl acetate, proper neurons involved in smelling were firing off in their brains. But How?
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