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PURA SYNDROME FOUNDATION BLOG

PURA Syndrome Foundation Blog

Recent Blog Posts

PURA Gene Review Published in "Frontiers in Genetics"

PURA Gene Review Published in "Frontiers in Genetics"

Stefano's Rare Disease Day Story

Stefano's Rare Disease Day Story

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Rare Disease Day

Stefano's Rare Disease Day Story

Stefano's Rare Disease Day Story

Francesca Greco gave birth to a beautiful baby boy, Stefano, in 2018 in Italy; however, after noticing early delays, Francesca states...

Megan's Rare Disease Day Story

Megan's Rare Disease Day Story

In 2014, Megan was one of the first 11 individuals identified with a genetic defect on the PURA gene and “PURA Syndrome was born.” Mary...

Joshi's Rare Disease Day Story

Joshi's Rare Disease Day Story

Caroline Maria Thorpe from Gran Canaria, Spain, was thrilled to welcome her second child, Joshua, into the world in October of 2013 after...

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The PURA Syndrome Foundation is a registered 501(c)(3) charity organization. Information on this website is not a substitute for personal medical advice. Families should consult a medically qualified physician in all matters relating to genetic diagnosis , management, and health . Information about PURA and genetics in general is a very fast moving area and while the information on this website is regarded as the best at the time of publication , some facts may change later .

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