In April 2024, we received a diagnosis that our precious little granddaughter Hattie has a rare genetic disorder that affects neurodevelopment--PURA Syndrome. Since then we have connected with the PURA Syndrome Foundation.
Wouldn’t it be amazing if PURA families got together to raise awareness in our communities and invite others to join us in our mission to support and drive research, as well as serve and empower families impacted by PURA Syndrome? We are taking a bold approach to advocate and work for what we need to bring the key issues of PURA and those living with PURA to light – and to light up the world with the possibilities of what if! WE can do this, and you can help!
October 2024 marks 10 years since the first papers were published on PURA Syndrome. Prior to that some families had gone decades without a diagnosis. Since that time, our community has grown to over 650 strong and we've made great strides in research and supporting families. Help the PURA Syndrome Foundation continue our mission to support our PURA Perfect community by participating in the 2024 Together for PURA Fundraising Campaign.
We are committed to raising 250K to support our mission. To reach this goal we need every family, every extended family, every connection, every local business, every media outlet, every small business and every big corporation to be part of the vision and move this forward. Together we are stronger!
ABOUT PURA SYNDROME
PURA Syndrome is a rare genetic disorder that affects neurodevelopment. It was first described in medical literature in October of 2014 and there are currently only 650 known individuals with PURA worldwide. PURA syndrome arises when there is a genetic alteration affecting one of a person’s two copies of the PURA gene. The defect can be a single letter spelling change within the gene, a small insertion or deletion within the gene, or even a larger deletion removing one whole copy of the gene (and potentially many neighbouring genes as well).
- Where is the PURA gene located? On the long arm of chromosome 5 (at position 5q31.3)
- What does the PURA gene do? It encodes for a protein, pur-alpha, which is expressed in all tissues, including the brain, muscle, heart, and blood.
- pur-alpha has an important role in the normal development of the brain
- The pur-alpha protein’s role in the human cell includes:
- regulatory functions in DNA replication
- transcription and translation of mRNA
Learn more at: https://purasyndrome.org/understanding-pura-syndrome/pura-101/
