Over 1400 rare disease genes are not expressed in clinically accessible tissue (skin or blood), making them recalcitrant to functional interpretation in diagnostic practice. Individuals living with a medical condition caused by variants within these genes are often prevented a genetic diagnosis and personalised healthcare, continuing their diagnostic odyssey.
PERSYST aims to provide RNA-based functional evidence for Variants of Uncertain Significance (VUS) predicted to alter splicing in genes not expressed in clinically accessible tissues. The study will provide functional evidence of the pathogenicity of up to 500 such variants and involves using CRISPR-based transactivation on patient skin cell lines.
All clinical, diagnostic and research teams are welcome to enquire a VUS to Dr Lachlan Jolly at persyst@adelaide.edu.au. All enquiries will undergo in silico analysis pending approval by study investigators. Once approved, you will be invited to recruit and consent the patient to participate in the study.
Principal Investigators
Professor Jozef Gecz
The University of Adelaide
Dr Lachlan Jolly
The University of Adelaide
Recruitment information
Recruitment period: October 2023 – October 2027
Inclusion criteria
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Samples from carriers will be considered where sample from proband unavailable.
Exclusion criteria
- Variant not predicted to be involved in splicing.
- Individuals which do not consent to the study.
- Individuals with variants in genes causing late onset disorders which are not clinically actionable.
- Individuals with variants discovered outside of accredited clinical diagnostic services or a research project approved by institutional Human Research Ethics committee.
Sample requirements
Skin Biopsy or existing skin cell line (human dermal fibroblasts) required.
Recruitment sites
HREC Approval Number 2023/HRE00188.
Existing recruitment sites:
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Please contact the study team for more details at persyst@adelaide.edu.au
Resources
Please submit your variant enquiry here: www.redcap.link/persystenquiry
Contact
Tarin Ritchie
persyst@adelaide.edu.au or directly Tarin.ritchie@adelaide.edu.au
08 8313 3262