Innovative Diagnostics

Our goal is to bring the latest innovations in scientific and technical advances to the development of new, patient-oriented diagnostic testing.

Current areas of interest in new diagnostic test development and discovery include:

1.Brain tumor molecular diagnostics

We are developing highly specific and sensitive methods to detect and quantify mutations that can predict the outcome of adult and pediatric brain tumors. Ongoing work has identified a cell adhesion molecule, CDH11 in prognosis of glioblastoma. In medulloblastoma, the most common malignant pediatric tumor, we have identified a gene signature that predicts that a subset of Sonic Hedgehog tumors is characterized by overactivity of the N-cadherin cell adhesion molecule.

Tibor Valyi-Nagy, MD, PhD
Peter Gann, MD, PhD
Shrihari Kadkol, MD, PhD

2. Prostate Cancer

Overly aggressive treatment of indolent prostate cancer (PCa) occurs because identification of patients with a low-risk of having aggressive disease remains challenging. We have developed a “signature” of microRNA’s that is present in patient serum of men with prostate cancer that predicts whether their disease shows aggressive features. Ongoing work utilized computational and molecular approaches to refine the signature and validate its effectiveness on large patient cohorts.

Larisa Nonn, PhD
Peter Gann, MD, PhD

3. Minimally-Invasive Breast Carcinoma Monitoring

Tumor-derived DNA can be detected in the systemic circulation in the form of cell-free plasma DNA (cfpDNA), and the ability to interrogate tumor-derived DNA from an easily acquired biospecimen like cfpDNA has practical advantages over analysis of tissue specimens. Furthermore, cfpDNA has practical advantages over analysis of tissue species. Furthermore, cfpDNA can be monitored serially and could provide a dynamic measure of tumor profession and response to therapy. Activating mutations in the PIK3CA gene represent the most common molecular aberration in luminal breast cancers. We have developed a highly sensitive digital PCR method to detect and quantify levels in patient serum of the most common “hotspot” mutations in the PIK3CA gene in patients with breast cancer (abstract). Ongoing work will further refine the methods and validate the clinical utility of this approach in monitoring breast cancer progression and response to treatment.

Kent Hoskins, PhD