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Discovery

The Life Scientific: Anne Child

Discovery

BBC

Science, Technology

4.31.2K Ratings

🗓️ 28 October 2024

⏱️ 27 minutes

🧾️ Download transcript

Summary

Marfan syndrome is a genetic disorder that makes renders the body’s connective tissues incredibly fragile; this can weaken the heart, leading to potentially fatal aneurysms. What’s more, anyone with the condition has a 50/50 chance of passing it on to their children.

Dr Anne Child is a clinical geneticist who’s dedicated her professional life to finding answers and solutions for people affected by Marfan’s.

Born in Canada, she met her British future-husband while working in Montreal in a case she describes as "love at first sight" - and in the 1970s she relocated her life to the UK.

There, an encounter with a Marfan patient she was unable to help set Anne on a career path for life. She subsequently established the team that discovered the gene responsible for Marfan's, and founded the Marfan Trust to drive further research. Since then, life expectancy for those with the condition has jumped from 32 years old, to over 70.

Speaking to Professor Jim Al-Khalili, Anne shares how she and her team achieved this remarkable turnaround.

Transcript

Click on a timestamp to play from that location

0:00.0

You are about to listen to a BBC podcast and I'd like to tell you a bit about what goes into making one.

0:06.0

I'm Siddhartha Cesset, an assistant commissioner of Podcasts for BBC Sounds.

0:11.0

I pull a lot of levers to support a diverse range of podcasts on all sorts of subjects,

0:16.6

identity, comedy, even one that mixes poetry, music and inner city life.

0:22.1

So one day I'll be helping host develop their ideas, the next

0:26.0

fact checking, a feature and the next looking at how a podcast connects with its

0:31.5

audience and maybe that's you. So if you like

0:34.4

this podcast check out some others on BBC Sounds.

0:37.6

Hello today I'd like you to put on your metaphorical medical hats and see if you recognize what condition these symptoms

0:45.4

might relate to. Unusually tall height, elongated fingers, flat feet, weak joints, eyesight issues, heart problems.

0:55.0

Well done if you identified them as indicators of Marfan Syndrome.

0:59.5

This is a condition that renders the body's connective tissues incredibly fragile

1:04.0

and that can weaken the heart leading to potentially fatal aneurysms.

1:08.0

What's more, anyone with the condition has a 50-50 chance of passing it on to their children.

1:13.5

Dr. Anne Child is a clinical geneticist who's dedicated her professional life to finding answers

1:19.4

and solutions for people affected by Marfans,urred into action in the 1980s by a patient she was unable to help.

1:27.0

Anne's work over the decades since has helped transform what was once a bleak diagnosis

1:32.0

into a condition people can manage and

1:34.9

crucially live with. It's a remarkable turnaround within three decades life expectancy

1:40.6

for individuals with Marfans has gone from 32 years old to over 70.

1:46.1

And Anne has been there throughout, setting up the team that discovered the gene responsible,

1:51.3

founding the Marfan, to drive further research and establishing support

...

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