PURA Foundation Australia
Natural History Study
Working in collaboration with families and clinicians, this research project proposes to collect clinical data on PURA syndrome, from affected patients. This should enable researchers to define the full spectrum of this neuro-developmental disorder and characterise the natural history (what happens across different ages and life).
PURA patients are eligible for this research study if they have undergone genetic testing which confirms a mutation on the PURA gene, resulting in PURA syndrome. A genetic report or letter from a clinician confirming the result will be required for inclusion.
Involved PURA patients and/or their guardians will be interviewed by the PURA Foundation Australia research assistant (by phone or video conference) about various aspects of PURA syndrome including neurology and movement, seizures (if applicable), communication, milestones, orthopaedic concerns, and medications/treatments. The Murdoch Children’s Research Institute (MCRI) will maintain guardianship of the research project and collected data.
Participation is entirely optional. It is hoped that improving understandings of PURA syndrome will help in the establishment of effective management guidelines (education material), new research opportunities and treatments. This research project is being funded by the PURA Foundation Australia.
To participate email Kate Pope kate.pope@mcri.edu.au and provide the following:
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The PURA participant’s full name
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The PURA participant’s date of birth (DD/MM/YYYY)
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The PURA participants town and country of residence
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A contact email and phone number
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Genetic diagnosis confirmation report or letter
Kate will respond to email enquires from families within a week.
When we all work together, anything is possible.
Research is creating new knowledge. #PURAresearch
PURA Research Assistant
We would like to introduce our Research Assistant, Kate Pope. Kate started her career as a Division 1 nurse at the Alfred Hospital in Prahran and has worked in a wide variety of nurse related settings, both hospital based and community based. Working at Melbourne IVF, Kate changed from ward nursing to counselling and spent a total of 8 years working for both Melbourne IVF and Monash IVF. She completed her genetic counsellor training through Melbourne University during this time and was the genetic counsellor for the MIVF PGD program.
Kate moved to the Murdoch Children's Research Institute (MCRI) in Melbourne to work on the Accelerated Gene Identification project with Prof David Amor and the Genetics of Brain Development with Prof Rick Leventer in 2008, where she still works today. This role has expanded and changed over the years with Kate working on ethics, supporting families, completing data entry, collecting patient bio-samples, and supporting rare and novel disorders. This has enabled Kate to spend time working directly with families, and it is this aspect of the role that Kate values the most.
We welcome Kate to our PURA Foundation family and look forward to initiating new research opportunities and educating our community with her.
The PURA Research Assistant Role has been funded through donations to the PURA Foundation Australia - Melbourne Marathon Event held in October 2023. Thank you to everyone who donated and supported the commencement of this research role.