Integrated Clinical and Transcriptomic Profiling to Characterize Disease Phenotype

Personalized medicine requires that we first address the challenge of genetic heterogeneity, prominent in rare cancers to common disease. While current clinical DNA sequence data successfully identify novel genetic variants, the genomic data alone are insufficient biomarkers of clinical phenotype. There is an unmet need for systematic integration of specific functional genomic data with patient genetic data, in order to bridge the knowledge gap between genetic variation and clinical phenotype. This specific study is focused on functional genomic data from platelets as disease-specific cells that are also ideal for proof-of-principle transcriptomic investigation (being anucleate), and highly-relevant to multiple disease processes.

• Study Design:
  • Cross-Sectional
• Study Type:
  • Case-Control
  • Clinical Cohort
• Total number of consented subjects: 120
• Subject Sample Telemetry Report (SSTR)

• BioProject
• PubMed
• Sequence Read Archive
• PMC

Inclusion Criteria

Diagnosis of myeloproliferative neoplasms (MPN), hereditary blood disorders (HBD) or associated hematological conditions, any cellular classification.
Age > 18 years for MPN patients.
A routine procedure for tissue collection is planned.
Ability to understand and the willingness to sign a written informed consent.
Exclusion Criteria

Identification of any condition or circumstances that, in the opinion of the investigator, would affect the ability of the subject to understand or comply with the study protocol or would jeopardize the safety or rights of a subject participating in the study.

• Primary Phenotype: Myeloproliferative Disorders

• Principal Investigator
  • Anandi Krishnan. Stanford University, Stanford, CA, USA.
• Funding Source
  • 1K08HG010061-01A1. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.