The Diamond Blackfan Anemia Foundation is proud to partner with DBA Canada to fund a novel gene therapy research proposal from Dr. Johnson Liu, MD at The Feinstein Institute for Medical Research. The $48,210 project is titled, “Repairing Dominant Negative Mutation of RPS19 Gene by Spliceosome-Mediated RNA Trans-Splicing.” This approach takes advantage of the fact that human genes are made up of pieces of genetic information that are spliced together at the level of mRNA before they go on to create a protein.  The goal of this proposal is to swap one piece of coding information for another through a process called trans-splicing.  Using this approach, the coding information carrying a DBA-causing mutation will be swapped with normal coding information lacking the mutation. Dr. Liu stated,

“Normally, a person inherits one copy of a gene from mother and one copy from father, and in DBA, one abnormal gene is sufficient to cause the disease.  Our project aims to develop a new gene therapy strategy to treat DBA by repairing the message from the single abnormal gene that causes DBA. We are extremely grateful to the DBA Foundation and DBA Canada for supporting our project and look forward to contributing to new therapies for DBA.”

Like all approaches to gene therapy, this approach could potentially treat any genetically based human disease.  Dr. Liu’s team has used this approach successfully in animal models of hemophilia and Duchene Muscular Dystrophy.  Interestingly, one of the plenary talks at the American Society of Hematology (ASH) meeting this year was on the advances made in gene therapy in the past few years.  These advances pave the way for studies like those of Dr. Liu that will potentially result in improved gene-correction-based therapies for Diamond Blackfan Anemia.