PET PET
  • My Account
  • Subscribe
Become a Friend Donate
  • About Us
    • People
    • Press Office
    • Our History
  • Get Involved
    • Become a Friend of PET
    • Volunteer
    • Campaigns
    • Writing Scheme
    • Partnership and Sponsorship
    • Advertise with Us
  • Donate
    • Become a Friend of PET
  • BioNews
    • News
    • Comment
    • Reviews
    • Elsewhere
    • Topics
    • Glossary
    • Newsletters
  • Events
    • Upcoming Events
    • Previous Events
  • Engagement
    • Policy and Projects
      • Resources
    • Education
  • Jobs & Opportunities
  • Contact Us
  • About Us
    • People
    • Press Office
    • Our History
  • Get Involved
    • Become a Friend of PET
    • Volunteer
    • Campaigns
    • Writing Scheme
    • Partnership and Sponsorship
    • Advertise with Us
  • Donate
    • Become a Friend of PET
  • BioNews
    • News
    • Comment
    • Reviews
    • Elsewhere
    • Topics
    • Glossary
    • Newsletters
  • Events
    • Upcoming Events
    • Previous Events
  • Engagement
    • Policy and Projects
      • Resources
    • Education
  • Jobs & Opportunities
  • Contact Us
  • My Account
  • Subscribe
  • Privacy Statement
  • Advertising Policy
  • Thanks and Acknowledgements
PETBioNewsReviewsPodcast Review: How to be a Superhero — The hidden powers within your genes

BioNews

Podcast Review: How to be a Superhero — The hidden powers within your genes

Published 18 March 2021 posted in Reviews and appears in BioNews 1089

Author

Joseph Hamilton

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.

When you hear the word 'superhero', the image which springs to mind may be of a billionaire playboy philanthropist or an agile acrobat in unnecessary tight latex...

When you hear the word 'superhero', the image which springs to mind may be of a billionaire playboy philanthropist or an agile acrobat in unnecessary tight latex. In the latest episode of the Genetics Unzipped podcast, 'How to be a superhero: the hidden powers within your genes', Dr Kat Arney expanded this term to include those who are resilient against disease-causing mutations in their own genome. Inspired by an article in The Atlantic, the episode discusses genetic research unified by an atypical, yet refreshing, scientific question: why are these individuals healthy?

Scientific communication is clearly Dr Arney's superpower, with the episode encompassing several interesting epidemiological studies. The host concisely describes a 2016 paper, published in Nature Biotechnology, which reported the screening of almost 600,000 genomes for mutations in 874 genes known to cause early-onset Mendelian diseases. The research identified 13 individuals who, according to their medical records, had no clinical manifestations of their inherited disease. Unfortunately, the lack of recontact clauses in the original studies meant clinical reports couldn't be verified, prompting the researchers to continue searching for these genetic 'superheroes'.

Lead authors Professor Eric Schadt and Dr Stephen Friend of the Icahn School of Medicine at Mount Sinai, New York City, named the search for these rare individuals 'The Resilience Project' – likely because 'The Avengers Initiative' was already taken. Being trained to be a scientific sceptic, I appreciated the episode covering the caveats of the research which is essential for providing a laymen's audience with a balanced perspective. Dr Arney discussed the potential for human error in large genetic datasets, as well as the prospect of somatic mosaics – people with genetic variation throughout tissues in their body.

Despite the compelling nature of this research, the episode lacked dynamicity, likely because it did not follow the usual Genetics Unzipped format. There were no conversational excerpts from interviews or a co-host to grant a reprieve from the rehearsed script. The podcast format thus provided no added value compared to the transcript, however, the brevity of the segments managed to maintain my attention – a testament to the power of editing.

Speaking over what I assume is classical European folk music, Dr Arney continued to review genetic resilience within a Dutch cohort. The 2014 Nature Genetics study created a genetic baseline for the Netherlands by whole genome sequencing 250 Dutch families, which accidentally discovered genetic anomalies such as two sexagenarian superheroes. Both individuals carried two dysfunctional copies of the SERPINA1 gene, which should have induced α1 antitrypsin deficiency – a disease primarily affecting the lungs and liver. Remarkably, they had no breathing issues – even after six decades, suggesting they were somehow resilient to their genetic code. However, it may be premature to start fitting them for initial-emblazoned capes: disease-causing mutations can be nullified when extended to larger, more diverse genetic datasets.

The highlight of the episode, as dog-lovers will understand, was Ringo the Brazilian golden retriever who defied odds by living a long, healthy life, despite being bred to develop Duchenne's Muscular Dystrophy (DMD). As males only have one X chromosome, inheritance of a single faulty dystrophin gene leads to severe muscle-wasting which affects one in 3500 males worldwide. Interestingly, as noted in the Cell paper, Ringo demonstrated high expression of Jagged1 in skeletal muscle tissue – a protein involved in a signalling pathway which influences muscle regeneration. This expression profile was identical in his unaffected puppy Suflair, who had 48 other siblings (down, Ringo), and was replicated in a zebrafish model. Amazingly, this has led to a completely new therapeutic avenue for DMD, meaning these dogs are undeniably good boys.

Ringo isn't the only superhero whose personal genome has led to new treatments: the episode concludes with the tale of Sharlayne Tracy, a 40-year-old African American woman with genetics to be envied. In a country which advises cholesterol levels to be under 100mg/dL, Tracy averages at an astounding 14mg/dL. In their Cell article, researchers at UT Southwestern, Dallas, Texas, discovered that Tracy carried two rare versions of the PCSK9 gene, which essentially ablated the gene's function.

After considering how to inhibit my own PCSK9 gene, I was informed that it encodes for a protein which regulates low-density lipoprotein (LDL) receptors found on the surface of liver cells. Without PCSK9 production, an increase in LDL receptors promotes clearance of cholesterol from the circulation, reducing the risk of arteriosclerosis. Unsurprisingly, PCSK9 inhibitors were subsequently approved in the UK in 2016 and contribute towards reducing heart disease, showing the impact of genetic resilience research.

Throughout the episode, Dr Arney features compelling anecdotes of genetic superheroes, both human and canine, providing a wholesome relief from the majority of research which focuses on disease-affected individuals. Although I prefer a more personable element to podcasts and feel the medium didn't enhance the transcript, I would recommend the series as a whole. Similarly, I would advocate signing up to The Resilience Project, especially if you are unaffected with a familial history of disease. For now, if I can't have telekinesis, I'll settle for low cholesterol.

Sources and References

  • 11/03/2021
    The Genetics Society Podcast
    How to be a superhero: the hidden powers within your genes

Related Articles

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
Reviews
16 July 2021 • 4 minutes read

Podcast Review: Ingenious

by Georgina Al-Badri

The jargon-free BBC4 genetics podcast series, Ingenious, exposes the history and future of research into a selection of genes...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
Comment
25 June 2021 • 5 minutes read

A matter of diagnosis... and why diagnosis matters

by Allison Watson

Ring chromosome 20 syndrome is an ultra-rare difficult to treat epilepsy, often accompanied by intellectual disability and behaviour disorder...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
News
26 February 2021 • 2 minutes read

Longevity gene protects brain stem cells from stress

by Joseph Hamilton

A gene linked to longevity has been shown to protect brain stem cells from oxidative stress...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
News
25 February 2021 • 2 minutes read

Newlywed's satisfaction may be linked to a genetic variant

by Martha Roberts

Psychologists have found a genetic variant associated with relationship satisfaction in the first years of marriage...

Image by Alan Handyside via the Wellcome Collection. Depicts a human egg soon after fertilisation, with the two parental pronuclei clearly visible.
CC0 1.0
Image by Alan Handyside via the Wellcome Collection. Depicts a human egg soon after fertilisation, with the two parental pronuclei clearly visible.
News
29 May 2020 • 2 minutes read

Neanderthal gene increases fertility and reduces miscarriage

by Dr Rachael Boyle

Women who carry a gene variant inherited from Neanderthal ancestors have fewer miscarriages, reduced bleeding events in pregnancy and increased fertility...

Leave a Reply Cancel reply

You must be logged in to post a comment.

« Webinar Review: The Genetics of Addiction

Data-Label The UK's Leading Supplier Of Medical Labels & Asset Labels

RetiringDentist.co.uk The UK's Leading M&A Company.

Find out how you can advertise here
easyfundraising
amazon

This month in BioNews

  • Popular
  • Recent
20 June 2022 • 5 minutes read

Documentary Review: Our Father

20 June 2022 • 4 minutes read

Podcast Review: How Far Could Genome Editing Go?

13 June 2022 • 3 minutes read

Podcast Review: Happy Mum Happy Baby – Tom Daley

13 June 2022 • 3 minutes read

Podcast Review: The Outlook – The shocking truth about my three dads

23 May 2022 • 4 minutes read

Documentary Review: Freezing Fertility

1 August 2022 • 3 minutes read

Podcast Review: Stories of Our Times – IVF, fraud and 'unwanted' children

25 July 2022 • 4 minutes read

TV Review: DNA Family Secrets – series two, episode six

18 July 2022 • 4 minutes read

TV Review: Spotlight – The babymaker uncovered

11 July 2022 • 4 minutes read

TV Review: DNA Family Secrets – series two, episode three

4 July 2022 • 3 minutes read

Podcast Review: Biohacked Family Secrets – The birth of the sperm bank

Subscribe to BioNews and other PET updates for free.

Subscribe
  • Twitter
  • Facebook
  • Instagram
  • LinkedIn
  • YouTube
  • RSS
Wellcome
Website redevelopment supported by Wellcome.

Website by Impact Media Impact Media

  • Privacy Statement
  • Advertising Policy
  • Thanks and Acknowledgements

© 1992 - 2022 Progress Educational Trust. All rights reserved.

Limited company registered in England and Wales no 07405980 • Registered charity no 1139856

Subscribe to BioNews and other PET updates for free.

Subscribe
PET PET

PET is an independent charity that improves choices for people affected by infertility and genetic conditions.

  • Twitter
  • Facebook
  • Instagram
  • LinkedIn
  • YouTube
  • RSS
Wellcome
Website redevelopment supported by Wellcome.

Navigation

  • About Us
  • Get Involved
  • Donate
  • BioNews
  • Events
  • Engagement
  • Jobs & Opportunities
  • Contact Us

BioNews

  • News
  • Comment
  • Reviews
  • Elsewhere
  • Topics
  • Glossary
  • Newsletters

Other

  • My Account
  • Subscribe

Website by Impact Media Impact Media

  • Privacy Statement
  • Advertising Policy
  • Thanks and Acknowledgements

© 1992 - 2022 Progress Educational Trust. All rights reserved.

Limited company registered in England and Wales no 07405980 • Registered charity no 1139856