The subspecialty of Molecular Genetic Pathology employs testing of nucleic acids (DNA and RNA) for disease diagnosis. A variety of tests for the presence of mutations in DNA, chromosomal translocations and altered levels of RNA (gene expression) are used in four general areas of disease:
- Hereditary diseases (e.g., cystic fibrosis)
- Hematologic malignancies (e.g., leukemia)
- Solid tumors (e.g., lung cancer)
- Infectious diseases (e.g., HIV/AIDS)
There are seven pathologists in the Molecular Genetic Pathology specialty at Northwestern Medicine who participate in clinical diagnosis through Feinberg-affiliated care sites; basic, translational and clinical research; and education of residents, fellows and medical students. Clinical and clinical training activities take place in the Thorson Goodall Diagnostic Molecular Biology (DMB) laboratory at Northwestern Memorial Hospital, a state-of-the-art lab that is a nationally recognized leader in molecular diagnosis as a Roche Molecular Center of Excellence.
There are training opportunities for residents, fellows, medical students and others in the DMB laboratory, including clinical training in molecular genetic pathology and a variety of short- and long-term research projects in the four areas of the specialty. Pathology residents may associate with the DMB laboratory during their residencies to gain in-depth experience in the practice of molecular genetic pathology and conduct research.
Faculty of Molecular Genetic Pathology conduct research in diverse areas of the specialty and current projects include biomarker discovery in acute myeloid leukemia, mechanisms of prostate cancer metastasis, pathogenesis of African sleeping sickness and Chagas disease, mechanisms of regulation of nuclear receptors, molecular pathogenesis of lung cancer and estrogen receptor dysregulation in breast cancer. The DMB lab provides translational and clinical research support to a variety of centers and institutes, including the Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Northwestern Medicine Developmental Therapeutics Institute, Northwestern University Clinical and Translational Sciences Institute and NUgene.
Specialty members provide support to clinicians at Feinberg-affiliated care sites for disease diagnosis, choice of treatment (companion diagnostics) and evaluation of patients after treatment for residual disease or disease recurrence.