Francesca Greco gave birth to a beautiful baby boy, Stefano, in 2018 in Italy; however, after noticing early delays, Francesca states “the doctors could not explain his condition or identify a reason for the delays, so they proposed we carry out a Whole Exome Sequencing (WES)” which is a genomic technique frequently used to identify and study very rare genetic conditions. At the young age of 9 months, Stefano was diagnosed with PURA Syndrome. Stefano loves to play with his br

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 states, “we were so relieved to finally have an answer and a name for Megan’s condition and we were able to connect with other families through social media almost immediately.” “We were so relieved to finally have an answer and a name for Megan’s condition and we were able to connect with other families through social media almost immediate

Despite facing several challenges related to COVID-19 in 2020, the PURA Syndrome Global Research Network (GRN) has been hard at work over the last several months. The GRN held a video conference in November of 2020, where six research groups from Denmark, Germany, the UK, and the USA provided updates on their latest research. Great progress has been made by new groups who recently joined the GRN. For example, Professor Matt Guille (UK) informed us about exciting PURA-relat

Caroline Maria Thorpe from Gran Canaria, Spain, was thrilled to welcome her second child, Joshua, into the world in October of 2013 after spending most of her pregnancy on bedrest. However, all was not well with her newborn and he was immediately put in an incubator after birth. Caroline states, “I will never forget the feeling of emptiness after he was born while I lay there without my baby in my arms.” Caroline states, “he went through a very critical stage but managed to f

I hope this message finds you healthy and well. As I look ahead to 2021, it is also with deep, deep gratitude and appreciation that I am writing this letter to all of our families, friends, supporters, and donors. We are grateful for each of you who continue to support us in furthering our mission to fund research, educate, and serve families impacted by PURA Syndrome. Last year was a challenging year for the Foundation. Due to the pandemic, research labs were temporarily