Anne Child on Marfan syndrome and love at first sight

The Life Scientific

BBC

Technology, Personal Journals, Society & Culture, Science

4.6 • 1.4K Ratings

🗓️ 2 July 2024

⏱️ 29 minutes

🔗️ Recording | iTunes | RSS

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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.

Presented by Jim Al-Khalili Produced by Lucy Taylor

Transcript

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0:00.0	Before you listen to this BBC podcast, I'd like to quickly tell you about some others.
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0:16.1	but which also resonate and apply to listeners around the world.
0:19.5	And because the team is such a diverse range of skills and strengths.
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0:34.7	find plenty more fascinating stories from all around the UK.
0:40.1	BBC Sounds Music Radio, radio podcasts.
0:43.6	Hello and welcome to the podcast edition of the Life Scientific.
0:47.0	I'm Jim Alcalie and this is the show where I get to talk with some of the world's
0:50.5	leading scientists and you get to find out what drives them.
0:54.0	So sit back, get comfortable and enjoy the episode.
0:57.0	Hello, today I'd like you to put on your metaphorical medical hats
1:01.0	and see if you recognize what condition these symptoms might relate to.
1:06.0	Unusually tall height, elongated fingers, flat feet, weak joints, eyesight issues, heart problems.
1:14.0	Well done if you identified them as indicators of Marfan Syndrome.
1:18.4	This is a condition that renders the body's connective tissues incredibly fragile and that can weaken the heart
1:24.8	leading to potentially fatal aneurysms. What's more anyone with the condition
1:28.8	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 Marfans.
	...

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