Clinical Trial: Investigation of the Genetics of Hematologic Diseases

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]



Official Title: Investigation of the Genetics of Hematologic Diseases

Brief Summary:

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 order to conduct genomic and functional studies as outlined in the secondary objectives.

Secondary Objectives:

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 indivi