Bone Marrow Failure Studies

Washington University School of Medicine

The Bone Marrow Failure Program is dedicated to understanding the factors that lead to bone marrow failure and the development of novel clinical therapies. Two of our studies are listed below.

1. Molecular Studies of Bone Marrow Failure (01-1103)

Principal Investigators:

Drs. Monica Bessler and David Wilson

Purpose:

The purpose of this study is to identify genetic factors that may contribute to the development of bone marrow failure.

Participant Requirements:

Individuals with bone marrow failure are asked to submit a sample of blood for genetic and chromosomal analysis. In addition, individuals are asked to complete a health and family history questionnaire and release their medical records related to their bone marrow failure. For individuals with a family history of cancer, medical records from affected individuals may be requested. There is no cost associated with the study. Individuals who live outside St. Louis may enroll in the study. We mail all study-related materials to you and pay for all mailing and phlebotomy costs.

Study Coordinator:

Contact Jennifer Ivanovich to enroll in the study.
314-454-5076
jen@ccadmin.wustl.edu

2. Inactivation of the PIGA gene (98-0527)

Principal Investigators:

Dr. Monica Bessler

Purpose:

The purpose of this study is to evaluate the blood of individuals with Paroxysomal Nocturnal Hemoglobinuria (PNH) and determine if there is a deficiency in certain proteins. If a deficiency is found, evaluation of the PIGA gene will be performed.

Participant Requirements:

Individuals with PNH are asked to submit a sample of blood for protein and gene studies. There is no cost associated with the study. Individuals who live outside St. Louis may enroll in the study. We mail all study-related materials to you and pay for all mailing and phlebotomy costs.

Study Coordinator:

Contact Jennifer Ivanovich to enroll in the study.
314-454-5076
jen@ccadmin.wustl.edu

3. Ribosome Biogenesis in Diamond Blackfan Anemia (DBA) (01-1103)

Principal Investigators:

Drs. Monica Bessler and Philip J. Mason

Purpose:

The study on the ribosome biogenesis in DBA is a satellite study of our investigations on the molecular studies of bone marrow failure mentioned above. The purpose of this study is to identify defects in ribosome biogenesis that may contribute to the development of anemia in patients with DBA. We study how genetic and environmental factors affect ribosome biogenesis and the production of red blood cells in patients with DBA.

Participant Requirements:

Individuals with Diamond Blackfan Anemia are asked to submit a sample of blood for genetic and proteomic analysis. In addition, individuals are asked to complete a health and family history questionnaire and release their medical records. For individuals with a family history of anemia, medical records from affected individuals may be requested. There is no cost associated with the study. Individuals who live outside St. Louis may enroll in the study. We mail all study related materials to you and pay for all mailing and phlebotomy costs.

Study Coordinator:

Contact Jennifer Ivanovich to enroll in the study.
jen@ccadmin.wustl.edu

Division of Hematology
Department of Medicine
Washington University School of Medicine