Scientists Search for 13 People to Help Solve Genetic Mutation Mystery

For all of the claims that 13 is an unlucky number, that doesn’t always appear to be the case. It’s been used to introduce horror movies and create panic in those who are superstitious, but today, it’s in more than one laboratory research notebook belonging to a number of scientists who study genetics. That’s because 13 people were found to have genetic anomalies, but show no symptoms of 584 serious childhood diseases.

Scientists would like to be able to do more research, but that may not be possible. Another oddity about the situation is that in order to treat those who are unhealthy, scientists find that they need to look to those who are healthy.

Scientific notebooks

Genetic Disease

Some diseases are transmitted though things like saliva and contact with other bodily fluids. Others are genetic, which means they have the potential to be handed down from one generation to the next. The issue becomes obvious when several generations experience the same symptoms of a certain disease. While there are treatments for many of them, not all of the diseases can be treated or cured.

That’s why scientists started to look at things on the genetic level. Why treat symptoms when you can prevent the disease itself? Better yet, why create something to treat a disease when the human body has already developed a sort of buffer for it?

Mutations with Responses

Not all people who have received the genetic material that causes a specific disease will end up with the disease. Scientists want to know how frequently that happens and what makes it happen at all. That’s why 30 scientists have been publishing their findings on the matter in the Nature Biotechnology Journal. Right now, those scientists would like to speak with just 13 subjects.

Using Existing Data

These scientists turned to genetic data that was already gathered, rather than gathering the data in their own lab. It’s a technique that is often employed in an effort to save time and money on research projects. They gathered the material with permission from the donors through several agencies that perform genetic testing.

The focus was on childhood diseases. The genetic information used belonged to adults. In this way, scientists could separate the people who had experienced symptoms from the people who had not, since the individuals were already beyond childhood.

Specifically, the search was on for genetic evidence of 874 genes that could indicate 584 medical conditions. The data was gathered from more than 500,000 genetic samples. Of those samples, 13 people demonstrated the genetic conditions for 8 diseases, but never showed any symptoms of having had the diseases in question.

There are strict laws that govern privacy as it relates to any kind of research and testing. Because the scientists had permission to use the material, but not permission to contact anyone who participated in the study, they are currently unable to move forward. Though their hands may itch to use their archival pens and document more information about these genetic events, they simply aren’t able to just yet.

However, if and when that becomes possible, they may be able to unravel the genetic secret to preventing the onset of a disease even when it exists within the genetic code.


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