Founder of an international organisation to encourage research into the rare genetic disorder Prader-Willi syndromeIn 1984 Jean Phillips-Martinsson, a British woman living in Sweden, came across an article in the Lancet. It was about Prader-Willi syndrome (PWS), a rare genetic condition named after Andrea Prader and Heinrich Willi, two of the three Swiss paediatricians who discovered it in 1956.It was a lightbulb moment for Phillips-Martinsson, who had been in limbo for 14 years, wanting to know why her son, Anders, born in 1970, was floppy and unable to suck as a baby, and later had behavioural problems and was constantly hungry (hyperphagia). It turned out these are all key signs of PWS. Continue reading...
Jean Phillips-Martinsson obituary
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Guardian ScienceBy Penny Warren
EXECUTIVE SUMMARY
Founder of an international organisation to encourage research into the rare genetic disorder Prader-Willi syndrome In 1984 Jean Phillips-Martinsson, a British woman living in Sweden, came across an article in the Lancet. It was about Prader-Willi syndrome (PWS), a rare genetic condition named after Andrea Prader and Heinrich Willi, two of the three Swiss paediatricians who discovered it in 1956. It was a lightbulb moment for Phillips-Martinsson, who had been in limbo for 14 years, wanting to kn
Key Takeaways
- Jean Phillips-Martinsson obituary.
- It was about Prader-Willi syndrome (PWS), a rare genetic condition named after Andrea Prader and Heinrich Willi, two of the three Swiss paediatricians who discovered it in 1956.
- It turned out these are all key signs of PWS.
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Published originally on Guardian Science
