Could YOU be one of these rare genetic heroes?

Some people who should have suffered from severe childhood diseases are walking among us, perfectly healthy and totally oblivious to the fact that they are genetically resilient. Knowing their genetic mechanisms of resilience could be the starting point for new therapies…

The results from a study called the Resilience Project, published this week in Nature Biotechnology, discovered that 13 individuals out of almost 600,000 studied were resilient to one of eight severe genetic childhood diseases:

These champions of certain inherited conditions are presumed to be carrying some kind of “buffer” against the diseases they have inherited – which means, they could be the key to new forms of therapies or even cures for some severe disorders.

The catch? The terms of the informed consent meant that the researchers were not allowed to contact these genetic superheroes.

Another problem was that the scientists did not have whole genome sequences, only information about specific genetic markers, so they couldn’t search the data for factors that could have been responsible for the hero-like qualities.

Data for the Resilience project was gathered retrospectively from various sources including popular ancestry and genetic health investigation services such as 23andMe. And that’s why none of the candidates could be contacted – the consent forms for these databases were drawn up long before the Resilience Project was even conceived.

Jay Schendure, a genetics researcher at the University of Washington who was not involved in the study told Wired:

Read on...

The last ‘generation’ of consents and corresponding sample collection for these kinds of large-scale studies were done without recontact in mind

As Stephen Friend, cancer biologist and senior author of the study, says:

It’s almost as if you got to take the wrapping off the box and you couldn’t open the box

Damn. What a waste! You might be thinking. But don’t worry, there are plans in the works to broaden the genetics studies – Friend says they are hoping to get millions of samples this time. In this next generation of research, participants will be given consent forms that allow them to be re-contacted.

Despite its drawbacks, the research so far has given the team some great insights: Primarily, that the “incomplete penetrance” for certain inherited diseases is likely more common than previously thought. In other words, the inheritance factors in our genomes for some severe diseases might not be as black and white as we currently understand them to be.

Although this innovative research is still in its early stages, it’s pointing the team in the right direction and could eventually uncover some exciting new areas to be explored in the world of inherited diseases.

Featured image via Flickr / tom_bullock

We need your help to keep speaking the truth

Every story that you have come to us with; each injustice you have asked us to investigate; every campaign we have fought; each of your unheard voices we amplified; we do this for you. We are making a difference on your behalf.

Our fight is your fight. You’ve supported our collective struggle every time you gave us a like; and every time you shared our work across social media. Now we need you to support us with a monthly donation.

We have published nearly 2,000 articles and over 50 films in 2021. And we want to do this and more in 2022 but we don’t have enough money to go on at this pace. So, if you value our work and want us to continue then please join us and be part of The Canary family.

In return, you get:

* Advert free reading experience
* Quarterly group video call with the Editor-in-Chief
* Behind the scenes monthly e-newsletter
* 20% discount in our shop

Almost all of our spending goes to the people who make The Canary’s content. So your contribution directly supports our writers and enables us to continue to do what we do: speaking truth, powered by you. We have weathered many attempts to shut us down and silence our vital opposition to an increasingly fascist government and right-wing mainstream media.

With your help we can continue:

* Holding political and state power to account
* Advocating for the people the system marginalises
* Being a media outlet that upholds the highest standards
* Campaigning on the issues others won’t
* Putting your lives central to everything we do

We are a drop of truth in an ocean of deceit. But we can’t do this without your support. So please, can you help us continue the fight?

The Canary Support us

Comments are closed