Scientists Are Using Pigs to Develop a More Useful Animal Model of Neurofibromatosis Type 1

According to a story from wearegreenbay.com, a team of scientists associated with the University of Wisconsin, Madison are undertaking a project that will help improve the effectiveness of research related to the rare disease neurofibromatosis type 1. The research will involve the creation of an animal model of the disease using CRISPR technology. There is a great deal of variability in neurofibromatosis which is primarily the result of the diversity of mutations that can be involved. Since not all patients carry the exact same mutation, a research finding that could be relevant to one patient could be meaningless to another.

About Neurofibromatosis Type 1

Neurofibromatosis Type 1 (NF-1) is a genetic disorder that has impact on a number of the human body’s functional systems. NF-1 is caused by a mutation of a gene located on chromosome 17 which is responsible for the production of the protein neurofibromin. This mutation can be heritable, but about half of cases are the result of spontaneous mutation. Symptoms of NF-1 include epilepsy, tumors affecting the nervous system and skin, spots on the skin, scoliosis and other skeletal deformations, learning and mental impairment, and vision disorders. People with the disorder also have greater risk of cardiovascular disease and cancer compared to unaffected people. The severity of symptoms can vary greatly; some people live fairly typical lives, whereas others are faced with serious quality of life challenges. There is no cure, and treatment generally involves managing serious symptoms and complications as they appear. To learn more about NF-1, click here.

Lauren Geier, who is nine years old, is a patient with the disease. Her neurofibromatosis is caused by a microdeletion mutation, meaning that a small section of her chromosome is missing.

About The Research

The goal of the project is to create a pig animal model of the disease that can represent different mutations. The scientists used CRISPR to create the same microdeletion in a pig embryo. So far, four piglets have been born that carry the same mutation as Lauren. They will be used for future research that can be relevant for predicting disease progress and the development of personalized treatments that are precisely tuned for Lauren and other neurofibromatosis patients with the same microdeletion.

 


Share this post

Share on facebook
Share on google
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email
Close Menu