A Story of Hope

Diamond Blackfan anemia (DBA) is a rare and devastating disease, with just over 500 reported cases in North America. Despite its rare occurrence, Jeffrey M. Lipton, MD, PhD, has dedicated his career to unraveling this genetic and molecular puzzle.

Patients suffering from DBA do not have the ability to produce red blood cells in their bone marrow. These patients face life-threatening anemia and have facial anomalies, upper limb or hand defects, genitourinary problems, cardiac malformations and short stature. They also have a predisposition to cancer.

Dr. Lipton and his colleagues have been trying to put the pieces of this disease together and develop better ways to treat it.

The Cohen Children's Medical Center of New York and The Feinstein Institute for Medical Research are home to the Diamond Blackfan Anemia Registry, funded by the National Heart, Lung and Blood Institute, and the registry is open to scientists worldwide.

This year, Newsday published a five-part story on Diamond Blackfan anemia and Dr. Lipton’s success in giving one little girl a shot at life with a bone marrow transplant provided by the birth of a brother who was a perfect match.

Funding Future Research

• The fundamental question that needs to be answered is: How does disruption of ribosome biogenesis result in the failure of red cell production, birth defects including short stature, and cancer predisposition?
  
  
• Furthermore, do the particular mutated gene and the type of mutation correlate with any of the clinical characteristics within a particular genotype, and can the mutation predict clinical findings (genotype-phenotype correlation)? Thus future efforts will be directed at expanding the DBAR and, in collaboration with investigators at Harvard and Johns Hopkins, Dr. Lipton's team will genotype the entire database as new genes are discovered.