Fanconi anemia

At Children's Hospital Boston, our care is informed by our research. We have a long history of research and innovation in conditions associated with bone marrow failure.

Research underway

• David Williams, MD, chief of the Division of Hematology/Oncology, is studying the communication between the bone marrow environment and hematopoietic stem cells, as well as developing a new gene therapy to treat FA.
•  Williams is also overseeing a stem cell transplant clinical trial for FA patients that avoids exposure to radiation during induction therapy, hopefully reducing the risk of secondary cancers in FA patients.
• Colin Sieff, MB BCh, senior associate in Medicine, is evaluating whether an androgen called danazol is safe treatment for FA. This clinical trial is open to new patients.
• Researchers at Children’s and the Dana-Farber Cancer Institute are also developing a new diagnostic blood test that compliments the current DEB test.

For more information about current research, visit our Fanconi Anemia & Bone Marrow Failure Multidisciplinary Clinic.

Stem cells teach lessons about blood diseases and more

Researchers George Daley, MD, PhD, and David Williams, MD, are using embryonic stem cells (ES cells) to model Fanconi anemia. Children with this form of bone marrow failure often don’t show low blood counts until about age 7. However, by manipulating the ES cells genetically, researchers have shown that the disease may originate before birth, during the beginnings of blood formation.

In addition, these researchers are using new methods to create blood stem cells from skin fibroblasts obtained from FA patients. These “reprogrammed” cells can be genetically corrected. They hope this approach will lead to new treatments for the aplastic anemia that occurs with FA.

This research suggests that children with Fanconi anemia are born with only a small number of blood stem cells. These can sustain the blood for some time, but eventually the inability to repair damaged chromosomes (a hallmark of Fanconi anemia) kills them off. Researchers hope that ES cells can be used to test possible drugs that might prevent marrow loss.