C12165: Genetic Biomarker Prognostic Screen for Polycythemia Vera Patients
Novelty:
The technology is a PCR-based screening assay based on identified genetic biomarkers to determine prognosis in polycythemia vera patients.
Value Proposition:
Polycythemia vera (PV) is a blood cell disorder complicated by the risk of disease progression into acute myeloid leukemia and myelofibrosis. Predictive assays which can inform physicians about individual patient transformation risk are currently unavailable. However, information about patient transformation risk is important to avoid prescribing unnecessary and harsh medications to patients with very low risk of transformation. This invention identified genetic biomarkers that are differentially regulated in PV patients with good and poor prognoses. In addition, a PCR-based assay has been developed to distinguish between PV patients utilizing the identified genetic biomarkers. Other advantages of this technology include the following:
- Biomarkers are optimized for accuracy in both male and female patients
- The PCR-based assay has been optimized and verified using probes that identify 10 genes
- Additional biomarkers can be easily adapted to the assay or the set of genetic biomarkers can be adapted to an existing diagnostic screen
- Follow-up validation studies have confirmed that the biomarkers have a strong predictive value for transformation risk
Technical Details:
Researchers at the Johns Hopkins University have identified specific genetic biomarkers from stem cells which can be used as a screening tool for polycythemia vera patients at risk of disease transformation. Furthermore, the inventors have designed specific genetic probes as well as developed and optimized a PCR based assay to determine transformation risk among PV patients. Specifically, peripheral blood stem cells from PV and normal patients were used to assess differential gene expression. Identified genes could segregate both PV patients from normal controls as well as PV patients with poor prognoses from those with favorable disease prognoses. The inventors narrowed the list of identified biomarkers to 10 genes used in the developed assay. By measuring the gene transcript levels of the identified genes, a probability score can be calculated for PV patients to determine transformation risk and tumor aggressiveness. The assay can be used to identify patients most likely to benefit from early institution of treatment.
Looking for Partners:
To develop and commercialize this invention as a molecular diagnostic test for SWS, KTWS, and/or PWS.
Stage of Development:
Pre-clinical
Data Availability:
PV progenitor cell lines
Publications/Associated Cases:
Clin Cancer Res. 2010 Sep 1;16(17):4339-52 C03144 C10637
