2024-2025 Review

Faculty Highlights

Department of Defense Awards

Goutham Narla, MD, PhD, received two prestigious Department of Defense (DoD) awards recognizing the translational strength of his research: DoD Impact Award - Therapeutic modulation of the Serine/Threonine Phosphatase PP2A for the Treatment of uterine serous cancers and uterine carcinosarcomas for exploring PP2A-based strategies to treat aggressive uterine cancers. DoD Translational Research Award - Therapeutic modulation of the Serine/Threonine Phosphatase PP2A to prevent resistance to MAPK inhibitor therapy in NSCLC for developing novel therapies to overcome drug resistance in non-small cell lung cancer.

Celebrating Academic Advancement in Genetic Counseling

Our genetic counselors play an essential role in shaping the future of genomic medicine. We proudly celebrated the promotion of two exceptional genetic counselors to assistant professor: Marie Louise Accardo, MS, CGC, and Colby Chase, MS, CGC. This milestone reflects our unwavering commitment to advancing the academic and research careers of genetic counselors who are integral members of our division. Their leadership continues to enrich our division’s clinical, educational, and research programs across the University of Michigan Health System.

patient care

Our division conducted over 3,000 visits in 2024 and over 3,100 in 2025 in adult medical and cancer genetics clinics, as the only adult genetics referral clinic in the state.

Enhancing Internal Medicine's Genetic Footprint

Our division deepened its collaboration with programs across the University of Michigan Health System to educate clinicians on how and when to integrate genetics into the care of their patients. We also embedding rotations and mentorship within the Internal Medicine residency and fellowship training programs so that the clinicians of tomorrow are genetics-literate—ready to enhance diagnostic precision and patient outcomes across fields such as oncology, cardiology, and metabolic disease. The result: broader access to genetics-informed care, better-informed treatment strategies, and a stronger bridge between discovery and patient impact.

Streamlining Genetic Testing for Cancer Patients

Our division is preparing to launch a genetic testing station in the University of Michigan Rogel Cancer Center that aims to streamline genetic testing for patients with a cancer diagnosis where testing is clearly indicated. This model shifts our efforts toward post-test counseling and cascade testing of at-risk relatives, rather than the traditional time-consuming, pre-test counseling. We anticipate this approach may extend to other areas of genetic diagnosis, allowing us more time for counseling in situations where it provides greater value (i.e. confirmed genetic diagnosis or predictive testing).

Solving Undiagnosed Diseases

With our partners in pediatric genetics, we have initiated an Undiagnosed Disease Clinic designed to identify the causes of previously undefined conditions. While still early in its development, we have assembled experts from across our health system and are now recruiting patients. Initially focused on researching genetic diagnoses using advanced sequencing methods, we hope to expand into non-genetic etiologies of unexplained diseases.

research

With nearly $1 million in federal funding in 2024, and over $1.2 million in 2025, our division conducts basic, translational, and clinical research including research with trainees, international collaboration on rare diseases and cancer genetics, and participation in unique therapies.

SOX9 Loss Linked to Aggressive Colon Cancer

Colorectal cancer is the second leading cause of cancer-related death worldwide, yet the molecular mechanisms driving tumor progression remain incompletely understood. In a study published in the Journal of Clinical Investigation, researchers used mouse models and analyses of human tumor samples to show that loss of the gene SOX9 promotes colorectal cancer progression and may represent a potential therapeutic target. Led by Eric Fearon, MD, PhD, the team investigated the role of SOX9, a gene previously linked to colorectal cancer but with conflicting evidence regarding its function. Using mouse models, the team inactivated SOX9 alongside APC, a tumor suppressor gene that is mutated in approximately 80% of colorectal cancers. While loss of SOX9 alone did not promote tumor formation, combined inactivation of SOX9 and APC resulted in significantly more invasive tumors than APC loss alone. Further analysis revealed that tumors with low or absent SOX9 undergo epithelial-mesenchymal transition, a process that enables normally stationary colon cells to migrate and invade surrounding tissues, facilitating metastasis to organs such as the liver, lungs, and lymph nodes. These findings were supported by clinical data from nearly 400 patients in the Cancer Genome Atlas colorectal cancer cohort, where approximately 20% of tumors showed low or absent SOX9 expression. Patients with reduced SOX9 levels had poorer overall survival, reinforcing the gene’s role in limiting tumor progression. Ongoing work aims to better understand how SOX9 and APC interact and why their combined loss drives aggressive disease, with the goal of identifying new strategies to treat high-risk colorectal cancers.

National Leadership in Variant Interpretation

Tobias Else, MD, continues to advance national efforts in precision medicine as co-chair of the ClinGen Endocrine Tumor Predisposition Variant Expert Curation Panel—an NIH-funded initiative that defines the clinical relevance of genes and variants. Dr. Else’s work focuses on refining gene-specific classification guidelines to reduce Variants of Unknown Significance and bring greater clarity to genetic testing results. This initiative directly impacts hereditary endocrine tumor syndromes by helping clinicians offer clearer preventive and surveillance strategies to at-risk patients. The impact has been the translation of genetic data into actionable clinical insights and reducing diagnostic uncertainty for patients nationwide.

New Drug Aimed at KRAS-Mutant NSCLC

Patients with non-small cell lung cancer (NSCLC) harboring certain genetic mutations, such as the KRAS gene, face poor prognoses. To address this challenge, Goutham Narla, MD, PhD, and his team have identified a new protein target, protein phosphatase 2A (PP2A), and developed a drug aimed at KRAS-mutant NSCLS. The team discovered, with current FDA-approved drugs, tumor cells still gained resistance over a period of time, so they tested a novel molecular glue designed to stabilize PP2A. When added to treatment, it restored PP2A function and triggered cancer cell death. While results were promising, the team found it may not be effective for all NSCLC cases, and plan to initiate clinical trials with hopes to extend the approach to KRAS-mutant pancreatic and colon cancers.