Investigation of the Genetics of Hematologic Diseases

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.

Primary Objective:

– 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 conjunction with the existing St. Jude biorepository, to conduct
genomic and functional studies to facilitate secondary objectives.

Secondary Objectives:

– Utilize next generation genomic sequencing technologies to Identify novel genetic
alternations that associate with disease status in individuals with unexplained
non-malignant blood diseases.

– Use genomic approaches to identify modifier genes in individuals with defined monogenic
non-malignant blood diseases.

– Use genomic approaches to identify genetic variants associated with treatment outcomes
and toxicities for individuals with non-malignant blood disease.

– Use single cell genomics, transcriptomics, proteomics and metabolomics to investigate
biomarkers for disease progression, sickle cell disease (SCD) pain events and the
long-term cellular and molecular effects of hydroxyurea therapy.

– Using longitudinal assessment of clinical and genetic, study the long-term outcomes and
evolving genetic changes in non-malignant blood diseases.

Study point of contact

Marcin Wlodarski, MD


1 United States site

Study type

Observational [Patient Registry]





participation requirements

– An individual (proband) receiving therapy or expert consultation regarding a
non-malignant hematologic disorder, MDS or MPN.

– A biologically-related individual to the identified proband to include: first, second
or third degree relatives.

participation restrictions

– None


  • Memphis, Tennessee, United States, St. Jude Children's Research Hospital, 38105 [Recruiting]
Last updated 2021-07-22