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
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,...
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...
by Dominic Spadafore | Apr 18, 2020 | Research
Dear PURA community: I hope you are all healthy and this finds you well. I am sure that we are all standing resilient and vigilantly keeping our health and our loved ones safe in these uncertain and scary times.n nRecently we’ve been getting some questions about...
by Dominic Spadafore | Mar 7, 2020 | Annual Conference
nIt is our sad duty to inform you, our families and our community, that we as a board have taken the unfortunate decision to suspend this years in-person PURA syndrome conference.n nThis decision has been very difficult. And it has been discussed extensively. We are...
by Dominic Spadafore | Dec 27, 2019 | News
nAs it is the end of the year, I find myself going over a number if lists. n nLists of what I did this past year. A list of Thank You cards for presents. A list of places our family wants to go next year.n nAnd ultimately, a list of things that I need to finish....
