C11618: Novel Molecular Diagnostic for Aggressive Brain TumorsNovelty:
A genetic mutation in the ATRX or DAXX genes previously unknown for its presence in various aggressive brain tumors was discovered and thereby provides an attractive diagnostic opportunity.
Value Proposition:
Previously unreported changes in ATRX or DAXX gene’s amino acid sequence that appears to promote aggressive brain tumors have been observed and thereby provide an opportunity for development of a diagnostic. Other advantages include:
• Novel approach to characterize patients suspected with brain tumors.
• Application as a prognostic indicator in predicting clinical outcomes.
• Could be used as a companion diagnostic to stratify patients for specific treatments.
Technical Details:
Johns Hopkins University researchers along with researchers at Duke University have developed methods of determining mutations that can be used to diagnose brain tumors associated with a specific molecular pathway. Specifically, researchers have sequencing evidence that a gene previously discovered to have frequent inactivating mutations in pancreatic neuroendocrine tumors (PanNETs) (JHU Ref: C11331) is also commonly found in the malignant glioblastoma multiforme (GBM), oligodendrogliomas, and medulloblastomas. Screening for this oncogenic genetic marker may provide insight into chances that a carcinoma is invasive and indicative of brain cancer. The novel protein seems to be a marker of central nervous system tumors that have telomeric destabilization that has been phenotypically seen in other unrelated tumor types.
Looking for Partners:
To develop & commercialize the technology as a novel diagnostic to assist physicians in characterizing patients suspected for brain tumors
Stage of Development:
Preclinical
Data Availability:
Under CDA / NDA
Publications/Associated Cases:
Science. 2011 Jul 22;333(6041):425 , C11331
