Genetic superheroes (and big data) that can save the world

By Adrian Ong

I read with great interest this article that highlighted a new study that has found evidence of thirteen “superheroes” whose genes could help cure serious diseases. Since the advent of technology to study genetics, research has been focused on identify genes that cause diseases. Knowledge of which genes, that have become non-functional, cause which disorders will simplify the diagnosis process of patients. However, what happens after identification is the need to find a cure.


Screenshot - The Guardian - Genetic Superheroes

This paradigm shifting way of studying the genes of seemingly healthy individuals identified some people who seem to be resilient to severe genetic disorders, like cystic fibrosis, that have high mortality in childhood. This meant that for individuals with such diseases, they do not usually survive beyond childhood. Thus, identifying and studying those who reach adulthood despite having those genetic markers have the potential to shed light to genetic or environmental factors that allowed these individuals to be unaffected by the disease.

In this big study that was published in April 2016, the screening of 589 306 individuals involving 30 authors from various institutes identified only thirteen individuals. This meant that researchers needed to work with large amounts of data, which may not be something that technology can support until recently. In fact, the researchers are actively looking for massive numbers of people to participate in the project, in the hope of discover new insights that can potentially improve and save the lives of millions. You can find out more about the project through

From this, I believe there are two main takeaways that we can as scientists reflect on:

  1. Sometimes, in order to solve a problem, we need to take a step back and look at it from the outside.
  2. Sometimes, it is how we pick the right set of data and make sense of it.

In this day and age, I thought it is also interesting to share about the idea of the Wisdom of the Crowd. With the Internet and powerful processors, scientists will be able to make use of this to make sense of the large amounts of information that may not appear to offer any trends or patterns.

Personally, as a fan of the X-Men, I do like the idea that these “superheroes” can help scientists better understand and cure the disease. Really, one does not need to be able to having lasers flying out of their eyes to be a superhero.



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