The DBA Foundation (DBAF) is proud to announce the funding of Dr. Adrianna Vlachos’ research project entitled, A Stategic Approach to Gene Discovery in DBA. We are pleased to fund this exciting project with DBA Canada (DBAC) and appreciate their $25,000 commitment towards this $125,225 multi-centered project.
Adrianna Vlachos, MD
The goal of this research project is to identify genes affected in the approximately 30-40% of DBA patients where their genes have not been identified by traditional sequencing of candidate ribosomal protein genes. Dr. Vlachos, Dr. Bodine, and a strong cadre of investigators at the National Genome Institute and John Hopkins University will employ state of the art technologies to further identify genes affected in DBA patients. The investigators will use comparative genome hybridization to identify genes deleted in DBA patients that may be responsible for the disease, and interrogate the entire genome using whole exome sequencing. “We are so pleased to have DBAF’s support and that of DBA Canada. We hope to continue to discover new genes and be able to genotype more and more patients,” stated Dr. Vlachos.
David Bodine, PhD
Why it matters. Gene discovery not only has the potential to lead to new therapeutic treatments, it is also vital to patient care. Initially it was thought that the vast majority of the DBA cases reported to the DBAR were sporadic. However, with the discovery of 11 published DBA genes, family studies have identified a higher-than-expected proportion of individuals carrying the gene mutation, without ever being anemic or requiring treatment. These individuals may have mild, if any, hematologic manifestations with or without DBA-associated congenital anomalies. Identification, in a timely fashion, of inherited cases within a family is imperative so that appropriate reproductive and, when applicable, stem cell transplant choices can be made. For example, asymptomatic siblings or parents can be counseled as to the risk of having an affected offspring, and asymptomatic, yet genetically affected siblings would be identified as unacceptable stem cell transplant donors for DBA patients.
The DBA Foundation sincerely thanks all our families and friends that have made funding this project possible. The researchers also appreciate your efforts. Dr. David Bodine stated, ” I promise to make this money count. It will allow us to move much faster in our search for DBA mutations. We are all grateful to the families and contributors for their confidence in us.”