Schwannomatosis is a rare form of neurofibromatosis that has only recently been identified. The genetic disorder affects less than 1 in 40,000 people, and causes the development of benign tumors, called schwannomas, that usually grow on spinal and peripheral nerves. These tumors develop when Schwann cells, which form the insulating cover around nerve fibers, grow abnormally. These tumors may cause pain that may be hard to manage. Tumor development appears to be primarily related to a change, or mutation, in certain genes that help regulate cell growth in the nervous system. So far, two of these genes have been identified as mutated in schwannomatosis patients (SMARCB1 and LZTR1). In addition, the NF2 gene is mutated in schwannomatosis tumors. These mutations prevent the genes from making the normal proteins that control cell proliferation, allowing cells to multiply excessively and form tumors.
Despite the recent successes of familial studies to uncover the genetic mutations in schwannomatosis, understanding of the molecular consequences of loss of NF2 and SMARCB1 or LZTR1 that give rise to schwannomas is still in its infancy. The central hypothesis of this study is based on the observation that, in contrast to neurofibromatosis type 2 (NF2), schwannomas in schwannomatosis patients are typically distinctly painful. Thus, SMARCB1 or LZTR1 gene inactivation, that is not typically present in NF2 schwannomas, could be responsible for the pain phenotype that is not associated to schwannomas in NF2.
The team led by Dr. Giovannini and Vitte will test this hypothesis by: 1) Using genetically engineered mouse models to determine the mechanisms of schwannoma development in schwannomatosis; and 2) Defining the role of Smarcb1 or Lztr1 gene inactivation in pain associated with schwannomatosis (collaboration with Dr. Michael Caterina, Johns Hopkins School of Medicine).
This work will provide the research community with novel model systems and databases of gene expression profiles from each model that can be used to design and perform pre-clinical tests of agents to relieve pain and tumor growth in schwannomatosis. The successful completion of this study will lead to a major leap forward in our understanding of schwannomatosis manifestations and in the availability of tools that can used over the next decade, to develop novel, efficacious therapies to control tumorigenesis and treat this pain.
We are writing to announce the appointment of Maie St. John, M.D., Ph.D. as Chair of the Department of Head and Neck Surgery, effective December 18, 2017. Dr. St. John was selected for this position following a national search and will be succeeding Dr. Gerald Berke, who is stepping down after leading Head and Neck Surgery at UCLA for 26 years.
A highly renowned surgeon, scientist and educator, Dr. St. John is Professor and Samuel and Della Pearlman Chair in Head and Neck Surgery and Co-Director of the UCLA Head and Neck Cancer Program. Dr. St. John’s laboratory studies the mechanisms of tumor progression and metastasis in head and neck cancer and seeks to identify and study novel genes and pathways for future targeted therapies, while actively incorporating the results of their laboratory-based research into the development of novel therapeutics. Her extramurally-funded research portfolio includes multiple NIH grants bridging basic science with clinical research and service. Dr. St. John is an outstanding educator who has provided mentorship to numerous trainees, and serves as a member of several prestigious organizations including the Executive Council of the American Head and Neck Society, Nominating Committee of the Triological Society, and the American Academy of Otolaryngology-Head & Neck Surgery. She also is a senior examiner for the American Board of Otolaryngology and a reviewer for the American Academy of Otolaryngology/Head and Neck Surgery CORE grants, and NIH/NIDCR, NCI and NIBIB study sections. She has been the recipient of multiple awards for teaching and research.
Dr. St. John received her undergraduate degree from Stanford University and both M.D. and Ph.D. degrees from Yale University. She completed residency and postdoctoral training at UCLA and served previously as Chief of Head and Neck Surgery at Harbor-UCLA Medical Center
Dr. St. John’s clinical expertise is in intraoperative tumor margin delineation in the resection and treatment of head and neck cancers. Her laboratory research is translational with a focus on improving therapies and outcomes for patients with head and neck cancer. Her efforts have helped in the development of strong interdepartmental research program in Head & Neck Surgery and Bioengineering. This work has led to clinical trials and patent applications, and has been consistently funded by the NIH, charitable foundations, and industry.
Ranked second in U.S. News and World Report, the UCLA Department of Head and Neck Surgery is recognized internationally for research, education, and patient care in head and neck oncology, laryngology, otology, microvascular reconstruction, and many others. The department offers a highly competitive residency program and advanced training in a number of specialty disciplines. Under Dr. Berke, the department established the first Voice Center on the West Coast, and is the destination center for cochlear implantation. There are major research programs in laryngeal dynamics and physiology, voice perception and speech production, molecular oncology, inner ear biology, and vestibular neuroscience.
In announcing this appointment, we wish to recognize Dr. Berke’s leadership and many contributions to UCLA and to the field of Head and Neck Surgery over the past four decades. We look forward to his continuing as a surgeon, scientist and educator for many years to come. And we wish to thank the members of the Search Committee, whose names are listed below, for their hard work, dedication and commitment to the search process.
Please join us in congratulating Dr. St. John on her new role. We ask that you give her your support as Chair, Department of Head and Neck Surgery.
Vice Chancellor & CEO, UCLA Health
Kelsey C. Martin
Dean, David Geffen School of Medicine
President, UCLA Health & CEO, UCLA Hospitals & Clinics