About the study
The purpose of this study is to collect and store samples and health information for current
and future research to learn more about the causes and treatment of blood diseases. This is
not a therapeutic or diagnostic protocol for clinical purposes. Blood and bone marrow as well
as health information will be used to study and learn about blood diseases by using genetic
and/or genomic research. In general, genetic research studies specific genes of an
individual; genomic research studies the complete genetic makeup of an individual.
It is not known why many people have blood diseases, because not all genes causing these
diseases have been found. It is also not known why some people with the same disease are
sicker than others, but this may be related to their genes. By studying the genomes in
individuals with blood diseases and their family members, the investigators hope to learn
more about how diseases develop and respond to treatment which may provide new and better
ways to diagnose and treat blood diseases.
– Establish a repository of DNA and cryopreserved blood cells with linked clinical
information from individuals with non-malignant blood diseases and biologically-related
family members in order to conduct genomic and functional studies as outlined in the
Utilizing the biorepository, investigators aim to:
– Identify novel mutations that associate with disease status in individuals with
unexplained non-malignant blood diseases.
– Identify modifier genes in individuals with defined monogenic non-malignant blood
– Identify genetic variants associated with treatment outcomes and toxicities for
individuals with non-malignant blood disease.
– Use transcriptomics, proteomics and metabolomics to investigate biomarkers for sickle
cell disease (SCD) progression, paint events and the long-term cellular and molecular
effects of hydroxyurea therapy.