Genetic mutations and inherited diseases research paper topics

Started in 2014, the Resilience Project aims to profile the DNA of thousands of healthy adults to learn more about the ways our bodies protect us from inherited diseases. The hope is that by studying a wide range of people, the researchers can learn more about natural immunity, as well as genetic mutations that help and hurt us.

Find out more about genetic mutations and inherited diseases. (Credit: Sahifa)

Find out more about genetic mutations and inherited diseases. (Credit: Sahifa)

The Project and its goals hit on a number of other research paper topics as well, from information on how DNA first came to be mapped to what we still don’t understand about the building block of our bodies.

What is the Resilience Project?

We’ve all known people who seem to rarely get sick. But how do they not fall prey to the common cold or the flu, when others around them do? Maybe it’s their lifestyle, but maybe it’s their genes. A research paper could examine the dynamic between the two ideas, such as nature versus nurture. The researchers behind the Resilience Project wanted to take that idea to the next level by studying thousands of healthy individuals to see if our DNA had created genetic mutations to ward off some inherited diseases.

Analysis of nearly 600,000 genomes for resilience project” posted on April 11, 2016, on ScienceDaily.com shared the original goal of the Resilience Project—to “uncover naturally occurring, protective mechanisms that would serve as novel treatments for people affected by these diseases” through genome analysis—while also explaining why studying such a large number of people could be particularly helpful for this type of research.

Genetic mutations revealed

This first step of the Resilience Project identified 13 individuals with genetic mutations in their DNA that has protected them from several serious inherited diseases, such as cystic fibrosis and Smith-Lemli-Opitz syndrome. While this group isn’t large enough in number to figure out how they managed to stay healthy despite carrying the markers of serious inherited diseases, it does provide scientists with a starting point.

Arielle Duhaime-Ross wrote “Scientists could learn a lot from 13 people whose genetic mutations should have made them sick, but didn’t” on April 11, 2016, for theverge.com with more on how researchers could use this information about natural immunity to help others. For instance, researchers discovered a young woman whose cholesterol was much lower than normal in 2006. Duhaime-Ross explained, “These low levels were the result of two mutations on a gene called PCSK9 — mutations that eliminated an important cholesterol-regulating protein. Since then, drug companies have studied the mutations to develop new cholesterol-lowering drugs.”

One research paper topic could look into other mutations researchers have discovered. Another research paper could look into the history of the study of genes going back to Mendel, the father of modern genetics. 

Medical fixes on the horizon

While the Resilience Project offers fascinating possibilities for how we can treat inherited diseases by studying genetic mutations, what else is on the horizon thanks to DNA research? “How Inherited Diseases Could Be Halted by Gene-Fixing Jab” by Fiona MacRae for The Daily Mail (London) on January 1, 2016, shared information on Crispr, a new way of altering DNA.

MacRae wrote, “The technique involves injecting empty virus particles packed with a homing molecule and a ‘scissor’ protein. These zero in on the faulty part of the gene and snip it out. The gene then heals.” The goal would be to perform the procedure on newborns, allowing them to lead healthy lives, in effect “creating” a natural immunity. The process and timeline for testing on new treatments such as Crispr, or even new medications, is another area to consider for a research paper. How could such a medical procedure be misused by parents seeking so-called “designer babies”? 

Want to learn more about topics like immunization? Check out Questia—particularly the section on genetics. 

What do you see as the long-term benefits of DNA research like the Resilience Project? Let us know your thoughts in the comments.

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