by Liz Astridge | Feb 25, 2023 | Newsletter
The February Newsletter is out! Please take a moment to read about the following headlines: A Letter from the Foundation Meet our new Board Members New Research Publication Annual Conference Save the Date World Rare Disease Day PURA Meet Ups Click here to read it,...
by Amanda Shanks | Mar 11, 2021 | Research
The PURA Syndrome Foundation, in collaboration with the Global Research Network, is happy to share a new review of the PURA gene, “,The Molecular Function of PURA and Its Implications in Neurological Diseases”, which was published today, March 11, 2021, in...
by Amanda Shanks | Feb 28, 2021 | Stories
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...
by Amanda Shanks | Feb 22, 2021 | Stories
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...
by Amanda Shanks | Feb 21, 2021 | Research
nDespite 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,...
by Amanda Shanks | Feb 15, 2021 | Stories
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...
by Amanda Shanks | Feb 12, 2021 | News
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...
by PURA Syndrome Foundation | Oct 27, 2020 | News
The PURA Syndrome Foundation is pleased to announce the appointment of Amanda Shanks as President of the Board of Directors for a term of three years. Dominic Spadafore, who faithfully served as board president for the last four years, will remain on the Board of...
by Dominic Spadafore | Oct 24, 2020 | News
nnExciting News!I’m glad to be able to announce to you some exciting news at the Foundation!n nThe PURA Community has grown and changed since the start of the Foundation in 2015. Through our internal strategic planning we have realized that we need to change to...
by Dominic Spadafore | May 29, 2020 | Uncategorized
I woke up with morning and reviewed the litany of appointment reminders that have become common place with our modern technology and a “smart phone”. One in particular struck me this morning and it made me think of all of us. We the global PURA...
