Multi-Omic Analysis of Von Willebrand Factor Regulation in Endothelial Colony Forming Cells

This study evaluated the multi-omic analysis of endothelial cells with a focus on von Willebrand factor regulation, and investigated aspects of endothelial regulation in the context of blood disorders. The data available at dbGaP consist of multi-omic analyses of these cells. 

• Study Design:
  • Case-Control
• Study Type:
  • Case-Control
• Total number of consented subjects: 36
• Subject Sample Telemetry Report (SSTR)

• BioProject
• Sequence Read Archive

Inclusion Criteria

1. Patients >= age of 1 with a specific blood disorder:

• a bleeding disorder: Von Willebrand disease (VWD), Hemophilia, or other rare specific coagulation deficiencies
• presence of history of a thrombus: venous thromboembolism, pulmonary embolism, arterial ischemic stroke, etc. 
• sickle cell disease, including those with hemoglobin SS, hemoglobin SC, and other combinations resulting in clinical sickle cell disease
• a specific vascular disease: pulmonary hypertension, atherosclerosis, peripheral arterial disease, etc.
• blood dyscrasias or myeloproliferative disorders

2. Direct family members (age 1-99 years) of patients enrolled above. 

3. Healthy normal controls to establish a normal range of endothelial-specific outcomes.

• Primary Phenotype: Hematologic Diseases
• Endothelium

• Principal Investigator
  • Christopher Ng. Anschutz Medical Campus, University of Colorado, Aurora, CO, USA.
• Funding Sources
  • 1P01HL144457-01. National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
  • Grant. National Hemophilia Foundation, New York, NY, USA.
  • 5 H30 MC00008-20-00. Maternal & Child Health, Health Resources and Services Administration, Bethesda, MD, USA.