Research in Progress
Investigator: Dr. Azra Raza and Dr. Naomi Galili
Research Institution: Columbia University
Disease: Myelodysplastic Syndrome
Research Description: Myelodysplastic syndrome (MDS) is a group of bone marrow disorders where the bone marrow cannot produce enough healthy cells. This leads to low blood cell counts and a higher risk for developing acute myeloid leukemia. In the last couple of years, our understanding of the molecular genetic basis of MDS has increased exponentially. This research will look at a specific type called of MDS called RARS, which is found in 10-15% of all MDS patients. The research team will identify mutations unique to MDS‐RARS patients, and use new technologies, such as CRISPR CAs9 gene editing, to see if altering certain genes can increase cell survival. They expect that these results will provide insights into repurposed therapies that can be rapidly developed and used in the clinic.
CWR fuding role: Primary funder
Start date: August 1, 2012
Most recent report: A mutation found in about 60% of the MDS-RARS patients studied was identified. Patients with the mutation had better survival rates, and it has become the focus of the research project. Results from this research project have already been published in two high-profile scientific journals, PNAS and Molecular Cell. The research team has also begun to study anemia in MDS, which is a defining trait of the disease for many patients.
Anticipated next steps:
→ New data published in a scientific journal and/or presented at a scientific conference
→ Findings from project led to unanticipated discoveries, now in testing