Fit and well (finding)
An RNAseq study of SARS-CoV2 viral entry routes, disease biomarkers and therapeutic targets in the eye
Year Started: 2020
SARS-CoV2 is the virus which causes COVID-19, the form of coronavirus which is now a global pandemic. The gene ACE2 is involved when SARS-CoV2 infection occurs and the eye is an important possible place of entry for the virus to get into the body. It is thought that the virus enters the eye through ACE2, but this remains unclear. We will look at gene expression in eye tissue to identify whether ACE2 is important in the eye and generate a picture of biomarkers of the eye which may predict disease severity. This will help in understanding the first steps in the mechanism of infection and potential targets for therapies. We will be using excess surgical tissue from the eyes of non COVID-19 patients undergoing surgery for other reasons.
- Access:
- Access restricted at present
- Type:
- Cohort
- Status:
- In progress
- Consent restrictions:
- Commercial restriction, Xenograft restriction
Associated Data Type | Procurement Timeframe |
---|---|
Biomarker datasets | > 6 months |
Clinical records | > 6 months |
Genomic datasets | > 6 months |
Physiological/biochemical measurements | > 6 months |
Quality indicators | > 6 months |
Donor Ethnicity | > 6 months |
Male
Adolescent (12 - 18 years)
1 - 10 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
Tissue specimen | -60°C to -85°C | Not applicable | 100% | ||
RNA | -60°C to -85°C | Not applicable | 100% |
Female
Adolescent (12 - 18 years)
1 - 10 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
Tissue specimen | -60°C to -85°C | Not applicable | 100% | ||
RNA | -60°C to -85°C | Not applicable | 100% |
Severe combined immunodeficiency due to absent interleukin-2 receptor (disorder)
Deep immuno-phenotyping to identify precision medicine targets in adult and paediatric patients with Combined Immunodeficiency
Year Started: 2016
Primary Immunodeficiencies (PIDs) are rare inherited diseases of the immune system that may lead to recurrent infections, malignancy or autoimmunity, all with a significantly impaired quality of life. There are currently over 200 different PIDs with approximately 250 different genes linked to these disorders. Through the NIHR/Wellcome Trust Southampton Clinical Research Facility for Experimental Medicine and Translational Medicine Laboratory, we will perform deep-phenotyping (detailed examination of possible pertinent findings of gene tests) of 20 patients with PID to gain additional understanding of the cause each patients’ rare immunological disease. This greater understanding will hopefully identify novel therapeutic targets and the initiation of personalised treatments. Previously at our centre we have shown that, by this approach, we can commence precision therapeutics for patients with PID that substantially reduced morbidity and mortality.
- Access:
- Access restricted at present
- Type:
- Disease specific
- Status:
- In progress
- Consent restrictions:
- Commercial restriction, Xenograft restriction
Associated Data Type | Procurement Timeframe |
---|---|
Biomarker datasets | > 6 months |
Clinical records | > 6 months |
Followup records | > 6 months |
Genomic datasets | > 6 months |
Pathology records | > 6 months |
Quality indicators | > 6 months |
Treatment records | > 6 months |
Donor Ethnicity | > 6 months |
Female
Adolescent (12 - 18 years)
11 - 100 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
Whole blood | -60°C to -85°C | Not applicable | 100% | ||
Serum | -60°C to -85°C | Not applicable | 100% | ||
Plasma | -60°C to -85°C | Not applicable | 100% | ||
RNA | -60°C to -85°C | Not applicable | 100% | ||
Peripheral blood mononuclear cells (PBMC) | Liquid nitrogen vapor phase | Not applicable | 51 - 75% |
Male
Adolescent (12 - 18 years)
11 - 100 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
Whole blood | -60°C to -85°C | Not applicable | 100% | ||
Serum | -60°C to -85°C | Not applicable | 100% | ||
Plasma | -60°C to -85°C | Not applicable | 100% | ||
RNA | -60°C to -85°C | Not applicable | 100% | ||
Peripheral blood mononuclear cells (PBMC) | Liquid nitrogen vapor phase | Not applicable | 51 - 75% |