#genetic-disorder

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OMG science
fromThe Washington Post
2 months ago

How the race to invent a drug for one sick baby made medical history

KJ Muldoon was diagnosed with a severe genetic disorder, CPS 1 deficiency, leading to groundbreaking gene-editing treatment efforts.
fromwww.npr.org
2 months ago

From apps to gadgets, 'Second Life' considers how tech is changing having a baby

I was charmed by the visual, but my doctors warned that it might be a sign of a rare genetic condition.
Parenting
OMG science
fromCbsnews
3 months ago

Southern Minnesota woman believed to be the only known person with unnamed genetic disorder

Iris Enriquez exemplifies resilience as the only known person with her unnamed genetic disorder, teaching those around her to value life and love.
Film
fromNew York Post
4 months ago

Prince Frederik of Luxembourg 'couldn't get up by himself' before death at 22, says director: 'Really painful to watch'

Filmmaker Mei Fa Tan shares her poignant experience while directing a short film about Prince Frederik, who lost his battle with PolG at a young age.
fromwww.dw.com
4 months ago

Luxembourg's Prince Frederik dies of rare disease DW 03/10/2025

"It is with a very heavy heart that my wife and I would like to inform you of the passing of our son, The POLG Foundation Founder and Creative Director, Frederik," his father Prince Robert said.
Germany news
Medicine
fromenglish.elpais.com
5 months ago

Science finds explanation for disease that leaves children frozen'

Nora was diagnosed with Tango2 Deficiency Disorder after years of misdiagnosis, offering hope for her and others with rare conditions.
UK news
fromwww.bbc.com
5 months ago

Mum fears daughter's rapid deterioration without drug

The NHS's potential removal of Brineura could lead to rapid deterioration in children like Beatrice Cieslik with Batten disease.
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