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The goal of this study is to identify the platelet defect responsible for the bleeding in families from our inherited platelet disorders Israeli-Palestinian registry. The investigators plan to characterize platelet proteome expression after removing high abundance proteins. The investigators will compare the proteome of sick and healthy members of families with inherited platelet disorders, and identify and validate structural proteins, signaling cascades and biomarkers for detection and diagnosis of unknown platelet disorders. The investigators expect to discover new key findings that allow better understanding of human platelet function and allow better diagnosis and treatment of patients with inherited platelet function disorders.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| platelet disease | Experimental | patients with inherited platelet disorders |
|
| Healthy | Experimental | Healthy family members of patients with inherited platelet disorders |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood collection for platelet protein samples | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| Levels of detectable platelet proteins | Characterize platelet proteome expression profile | 2014-2015 (1 year) |
| Measure | Description | Time Frame |
|---|---|---|
| Changes in protein expression from sick and healthy platelets | Analysis of platelet proteome of sick and healthy members of families with inherited platelet disorders | 2015-2019 (4 years) |
| Measure | Description | Time Frame |
|---|---|---|
| Number of proteins that inducate disease | Identify and validate a panel of specific biomarkers candidates | 2017-2019 (2 years) |
Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hadassah Medical Organization | Jerusalem | Israel |
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