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Dr. Alexandra Prosser Receives Funding to Study Connection Between Ribosome Protein Gene RPL30 and Bone Marrow Failure


Dr. Alexandra Prosser Receives Funding to Study Connection Between Ribosome Protein Gene RPL30 and Bone Marrow Failure

Headshot of Alexandra Prosser, MD
Alexandra Prosser, MD
Pediatric Fellow
Full Biography

Alexandra Prosser, MD, Pediatric Hematology/Oncology Fellow, was awarded a two-year, roughly $173,444 grant from the National Institutes of Health (National Center for Advancing Translational Sciences) via a Frontiers CTSI TL1 Postdoctoral Training Program subaward.

Dr. Prosser’s study, “Functional evaluation of a novel RPL30 mutation and its role in Diamond Blackfan anemia: A model for studying ribosomopathies,” aims to describe the functional role of the novel RPL30 (ribosomal protein L30) variant in hematopoietic differentiation, ribosomal assembly, and protein translation.

Bone marrow failure in pediatrics is life-threatening and requires prompt, intensive treatment, which is dependent upon identification of underlying genetic drivers. Although there has been investigation into associated genetic mutations, especially in Diamond Blackfan anemia (DBA), the relationship between genotype and phenotype remains unclear.

Diamond Blackfan anemia is an inherited rare blood disorder that affects the ability of the bone marrow to make red blood cells. It has been identified as a ribosomopathy, a disease associated with defects in the structure or function of ribosomal component proteins or rRNA genes.

Ribosomal Protein S19 (RPS19) mutations are the most extensively described mutations along with changes in 20 other ribosomal protein genes. However, RPL30 has not yet been investigated in Diamond Blackfan anemia.

Dr. Prosser and her team identified a novel heterozygous variant in the noncoding region of RPL30 in a patient with clinical diagnosis of Diamond Blackfan anemia. Clarifying function of this variant along with its relationship with bone marrow failure will provide new insight into the process by which this disease develops.

“By performing a multidisciplinary, in-depth evaluation of this variant and its relationship with a clinical phenotype, our long-term goal is to provide an experimental model for studying variants of ribosomal genes and their impact on human disease,” said Dr. Prosser.

This study is being done in collaboration with Stowers Institute for Medical Research. Dr. Prosser’s mentors on this project include Dr. John Perry at the Children’s Mercy Research Institute and Dr. Jennifer Gerton at Stowers. Dr. Prosser’s TL1 funding supports her appointment as the first research fellow in the Division of Hematology/Oncology/BMT where she will receive continued professional support and mentorship.

The contents are those of the investigator and do not necessarily represent the official views of, nor an endorsement, by NIH, or the U.S. Government.