Tuesday, November 15, 2016

Expressing Mutations

It started as a simple experiment - scientist Heidi Rehm wanted to understand why her daughter's adult teeth had not emerged yet - but got a result she was not expecting. According to her daughter's genetic code, she had the coding only before seen in patients diagnosed with dilated cardiomyopathy, a fatal heart condition. Proceeding tests proved that her daughter had a healthy heart. Heidi had both her and her mother genetically tested, only to find that her and her mother also had the genetic code for the mutation, but also had healthy hearts. This is not the first story to come out of genetic coding and cardiomyopathy. Almost ten years ago, many African American people had been told they contained this mutation, meaning they had an increased chance of developing this condition. Years and many experiments later, it has been found that this mutation is too common in the population to be lethal.
Genetics is a growing field that is increasing in popularity and demand. Studies are now being conducted to understand the connection between genetic coding and expressed characteristics, such as heart disease and cancer. Although it is extremely difficult and time consuming to make direct correlations, scientists are working on it and making some headway. It was revealed in August that, on average, a person has about fifty four "lethal" mutations in the DNA. However, that does not mean that each of these mutations are necessarily harming each and every person. Heidi, her mother, and her daughter (so far) are all proof that genetics still has a lot of research left to be done.

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