Maturity-onset diabetes of the young (disorder)
HARC (Exploring the genetics of renal development disease (HNF1B))
Year Started: 2012
The HARC study looked to compare patients with renal developmental disease due to mutations in the HNF1B gene and those with 17q12 deletions. HNF1B genetic abnormalities are the most common monogenic cause of renal developmental problems, but are also known to cause monogenic diabetes / MODY5. Participants provided urine and serum samples to the biobank, and a minority also undertook MRI scans to look for pancreatic developmental abnormalities.
- Access:
- Open only through collaboration
- Type:
- Disease specific
- Status:
- Completed
- Consent restrictions:
- Other animal work restriction, Xenograft restriction
| Associated Data Type | Procurement Timeframe |
|---|---|
| Biomarker datasets | 0 - 3 months |
| Clinical records | 0 - 3 months |
| Followup records | 0 - 3 months |
| Freezer temperature logs | 0 - 3 months |
| Genomic datasets | 0 - 3 months |
| Physiological/biochemical measurements | 0 - 3 months |
| Primary care records | 0 - 3 months |
| Quality indicators | 0 - 3 months |
Male
Young adult (18 - 40 years)
1 - 10 donors
| Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
|---|---|---|---|---|---|
| Serum | -60°C to -85°C | N/A | Not applicable | 75% -99% | |
| Urine | -60°C to -85°C | N/A | Not applicable | 75% -99% |
Female
Young adult (18 - 40 years)
1 - 10 donors
| Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
|---|---|---|---|---|---|
| Serum | -60°C to -85°C | N/A | Not applicable | 75% -99% | |
| Urine | -60°C to -85°C | N/A | Not applicable | 75% -99% |