Eric Raabe, MD, PhD
Project: Determining the Role of H3FA Mutations in Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma (DIPG) is one of the most devastating childhood cancers, with mean survival times of a little more than a year. DIPG is a type of central nervous system cancer that is located in the pons section of the brain. The pons controls breathing and swallowing as well as movement in the face and head and arms and legs. The cancer is treated aggressively with radiation but in the last 30 years, no other treatments have been shown to extend a child’s life.
Eric Raabe, MD, PhD at Johns Hopkins University, hypothesizes that a mutation present in approximately 70% of DIPG tumors (H3FA) is necessary for the initial formation of the tumor. He wants to understand how this initiating mutation leads normal neural stem cells (the cells that develop into the body’s nervous system) to develop abnormally, how this abnormal growth then leads to the formation of a DIPG tumor and what role, if any, the initial mutation plays in the continued growth of the tumor. To conduct his research, Dr. Raabe is assessing the role of this mutation by placing it in the genomes of healthy neural stem cells in the laboratory. He aims to see how this mutation affects the other genes in the cell and the cells’ ability to grow into more mature cells. Finally, Dr. Raabe is taking these mutant cells and incorporating them into mice. The mice are monitored as they develop DIPG to determine how the core mutation changes how the tumor forms and grows. Dr. Raabe hopes that this knowledge will allow researchers to begin testing medications against this mutation in the laboratory to see what might prove effective in patients.
As of the conclusion of his CureSearch-funded project, Dr. Raabe has developed resources to progress drug development in DIPG:
- 1 novel major epigenetic alteration identified in DIPG
- 1 DIPG drug target identified
- 1 human neural stem cell line developed