DBAF Funds More Research and a Research-rich Conference

The DBA Foundation (DBAF) is proud to announce the funding of Dr. Fredrick Goldman’s research project entitled, Toward a cure for DBA: creation of patient-specific gene corrected hematopoietic stem cells using induced pluripotent stem cell technology. We are pleased to fund this exciting project that is on the cutting edge of research and has the potential to open doors to new and exciting treatment options for patients with DBA.

Dr. Fred Goldman

The goals of this University of Alabama at Birmingham research project are (1) to create an in vitro model of DBA using iPSC (induced pluripotent stem cells) for producing HSC (hematopoietic stem cells) by reprogramming patient cultured skin fibroblasts and (2)  to use genetic recombination strategy to correct/replace the gene defect in iPS (induced pluripotent stem) cells derived from patients with the RPS-19 mutation.

In general, this research may set the stage for an important patient-specific model system for studying developmental and physiological aspects of DBA that are currently unavailable.  Such iPS cells could also be used for drug screening, gene target treatment, and other purposes. Please see Dr. Steve Ellis’s Journal Club article below for more exciting details.

DBAF is also pleased to announce the sponsorship of the 9th International Conference on Ribosome Synthesis to be held in Banff, Alberta, Canada, August 22-26, 2012. The conference brings together world experts on ribosomopathies and ribosome synthesis. Diamond Blackfan Anemia will be a major player at the meeting. This level of attention for Diamond Blackfan Anemia provides more opportunity for research and scientific advancement in understanding the disorder.

The third project we are able to fund because of your generous support, is near and dear to our hearts. The DBAF is thrilled to announce the support of Dr. Steve Ellis’ research support work at the University of Louisville. Dr. Steve Ellis’ professional and personal commitment to DBA is immeasurable and deeply appreciated. Not only is he our dedicated Research Director, who is working tirelessly behind the scenes, he also writes the DBAF’s e-newsletter monthly Journal Club, and his lab at the University of Louisville provides research support services to groups from all over the wold, including Vlachos/Lipton group in New York, Irma Dianzani, Stefan Karlsson, and most recently, Ross Fisher, a clinician in San Diego. They expect to broaden these activities over the next year as they continue to move forward with a gene discovery consortium including Drs. Vlachos/Lipton, Bodine, and Arceci/Farrar. Dr.Ellis’s lab is also developing these strategies as a tool for DBA diagnosis. We are grateful to Dr. Steve Ellis for the integral role he plays in researching DBA and in the lives of all DBA patients and their families.

Steven R. Ellis, PhD
DBAF Research Director

The DBA Foundation sincerely thanks all our families and friends that have made funding of the research and conference possible.

Our hope for a cure is research. Your generous donations and fundraisers allow us to advance our mission of supporting DBA patients, families, and research.