Molecular Pathology

The subspecialty of Molecular Genetic Pathology uses nucleic acid (DNA and RNA) testing 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:

1. Hereditary diseases (e.g., cystic fibrosis)
2. Hematologic malignancies (e.g., leukemia)
3. Solid tumors (e.g., lung cancer)
4. Infectious diseases (e.g., HIV/AIDS)

Pathologists in the Molecular Genetic Pathology specialty at Northwestern Medicine participate in clinical diagnosis through Northwestern University Feinberg School of Medicine–affiliated care sites; basic, translational and clinical research; and education of residents, fellows and medical students. Clinical training takes place in the Thorson Goodall Diagnostic Molecular Biology (DMB) Laboratory at Northwestern Memorial Hospital, a state-of-the-art lab and a nationally recognized leader in molecular diagnosis as a Roche Molecular Center of Excellence.

Education

The DMB Laboratory offers training opportunities for residents, fellows, medical students and others, including clinical training in molecular genetic pathology and a variety of short- and long-term research projects across the specialty's four areas. Pathology residents may associate with the DMB Laboratory during their residencies to gain in-depth experience in molecular genetic pathology and conduct research.

Research

Molecular Genetic Pathology faculty 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
• Estrogen receptor dysregulation in breast cancer

The DMB Laboratory provides translational and clinical research support to a variety of centers and institutes, including: 

• Robert H. Lurie Comprehensive Cancer Center of Northwestern University 
• Northwestern Medicine Developmental Therapeutics 
• Northwestern University Clinical and Translational Sciences Institute
• NUgene Project

Patient Care

Specialty members support clinicians at Feinberg-affiliated care sites with disease diagnosis, treatment choice (companion diagnostics) and post-treatment evaluation for residual disease or disease recurrence.