Rafael Fonseca, M.D.

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SUMMARY

Rafael Fonseca, M.D., is the director for Innovation and Transformational Relationships at Mayo Clinic's campus in Arizona.

Dr. Fonseca has a broad range of research interests, including clinical trials for the treatment of myeloma and related conditions, a better understanding of the genetics of myeloma and related conditions (including the clinical implications), new drug development (including harnessing the cells' metabolism to develop effective therapies), myeloma bone disease, pharmacoeconomics, and policy. His research laboratory is currently composed of five full-time technologists and three postdoctoral fellows.

Focus areas

• Clinical trials. Dr. Fonseca is an active participant in clinical trials designed to evaluate new drugs or treatment approaches for patients with myeloma, smoldering myeloma, amyloidosis, Waldenstrom and related conditions. He has served as a principal investigator or co-investigator in many national clinical trials (cooperative groups, consortium and industry sponsored).
• Drug development and drug toxicity. The laboratory of Dr. Fonseca is actively involved in the development of new drugs for the treatment of myeloma. His team of researchers is trying to better understand the mechanism of action of immunomodulatory drugs such as lenalidomide and pomalidomide. They are actively seeking to discover a biomarker to predict response to treatment. His team is also interested in developing new molecules capable of blocking steps in the same pathway as immunomodulatory drugs. His research explores new strategies to diminish the neurocognitive toxicities associated with dexamethasone, the corneal toxicities associated with conjugated antibodies and the alopecia associated with melphalan.

• Genetics of myeloma. Dr. Fonseca and his colleagues have been instrumental in defining the genetic nature of myeloma cells and how this relates to clinical outcomes and progression. His studies in this area have begun a systematic evaluation of monoclonal gammopathy of undetermined significance (MGUS) plasma cells by molecular and cytogenetic methods. Ultimately, Dr. Fonseca wants to understand the nature of the clone, clinical and biologic significance of the abnormalities, and order of acquisition of abnormalities. He is also interested in the factors permissive for the significant genomic instability observed in the plasma cell neoplasms.

  Dr. Fonseca's laboratory was the first to describe that the two main pathways in myeloma pathogenesis, hyperdiploid versus nonhyperdiploid, are dictated by the presence of IgH translocations. Further, his lab was the first to show that this dichotomy is existent since MGUS, and was among the first to describe the presence of the same genetic abnormalities in MGUS as those seen in myeloma, including the high-risk genetic features.

• Pharmacoeconomics, policy and ethics. Dr. Fonseca has an interest in understanding the economic implications of cancer therapeutics. He has worked in collaboration with economists to provide a holistic understanding of the economic value of the treatment of myeloma. Many of these studies have been conducted using real-world databases and similar big data approaches. He has converted these observations into various opinion pieces aimed at providing context to better understand the cost of care in a holistic perspective and with a primary focus on the ethical implications from a patient perspective.
• Myeloma bone disease. The laboratory of Dr. Fonseca has investigated the use of calcium isotopes as biomarkers for bone disease detection in myeloma.

Significance to patient care

The cumulative research efforts of Dr. Fonseca's laboratory have led to a better understanding of myeloma and related diseases, and unlocked novel treatment options for patients and provided context for the pharmacoeconomic implications of new therapies.

Professional highlights

• Getz Family Professor of Cancer, 2009