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Grant Award View - GA353568
Rare disease diagnosis and discovery at short tandem repeat loci
GA ID:
GA353568
Agency:
National Health and Medical Research Council (NHMRC)
Approval Date:
24-Aug-2023
Publish Date:
22-Jan-2024
Category:
Medical Research
Grant Term:
1-Jul-2024 to 31-Dec-2028
Value (AUD):
$750,091.32
(GST inclusive where applicable)
One-off/Ad hoc:
No
Aggregate Grant Award:
No
PBS Program Name:
NHMRC 22/23 1.1 Health and Medical Research
Grant Program:
Investigator Grants
Grant Activity:
Rare disease diagnosis and discovery at short tandem repeat loci
Purpose:
Half of rare disease patients don’t receive an adequate diagnosis. This is especially true for diseases caused by repetitive genetic variants like Short Tandem Repeats (STRs). To address this, I will improve methods for detecting and interpreting STRs in genomes. I will accomplish this by developing software to analyse patient genomes and studying STRs in both patients and the general population. This work will benefit patients by increasing the diagnosis and understanding of rare diseases.
GO ID:
GO Title:
Investigator Grants 2023
Internal Reference ID:
2023/GNT2026126
Selection Process:
Targeted or Restricted Competitive
Confidentiality - Contract:
Yes
Confidentiality Reason(s) - Contract:
Privacy Act 1988
Intellectual property
Intellectual property
Confidentiality - Outputs:
Yes
Confidentiality Reason(s) - Outputs:
Intellectual property
Grant Recipient Details
Recipient Name:
St Vincent's Institute of Medical Research
Recipient ABN:
52 004 705 640
Grant Recipient Location
Suburb:
Fitzroy
Town/City:
Fitzroy
Postcode:
3065
State/Territory:
VIC
Country:
AUSTRALIA
Grant Delivery Location
State/Territory:
VIC
Postcode:
Country:
AUSTRALIA