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National Cancer Institute U.S. National Institutes of Health www.cancer.gov
Clinical Genetics Branch

Spotlight on Staff

Dr. Sharon Savage Develops a Telomere Biology Program for CGB and the Division of Cancer Epidemiology and Genetics

Sharon SavageDr. Savage joined CGB 18 months ago, as our newest senior investigator. She is trained in pediatric hematology/oncology, and also has extensive experience as a laboratory investigator from multiple experiences through the course of her career thus far. She came to CGB from NCI’s Section of Genomic Variation, which is part of the Pediatric Oncology Branch. Her research there led her into one of the newest and most exciting fields of cancer research, that related to telomere biology. Telomeres are structures at the ends of chromosomes that are essential for protecting chromosomes from damage during cell division. A complicated set of genes controls production of special proteins that keep the ends of chromosomes from sticking together when cells divide. Each time a cell divides normally, a little bit of the telomere is lost; the telomeres get shorter and shorter until they become too short for the cell to survive. The cells then die, as part of the body’s defense against allowing abnormal cells to persist and cause trouble. Dr. Savage developed considerable expertise related to this biological system during her laboratory work.

As fate would have it, one of the hereditary cancer susceptibility disorders that CGB was already studying, a disease called dyskeratosis congenita, was known to be caused by inherited mutations in several telomere-related genes. This seemed like a perfect way to combine Dr. Savage’s research interests with ours. She assumed responsibility for CGB’s dyskeratosis congenita (DC) project when she arrived, and has already succeeded in identifying mutations in yet another telomere-related gene as capable of causing DC. This exciting work will be published soon in the American Journal of Human Genetics. Her discovery was built in significant part on recently-published work done by Dr. Blanche Alter, also a senior CGB investigator, who demonstrated that the presence of very short telomeres may be a diagnostic test for DC. Meanwhile, we continue to recruit, examine and study new DC families, and learn more and more from them.

In parallel with these hereditary cancer studies, Dr. Savage has developed a series of projects aimed at characterizing the population genetics of the telomere pathway genes in various healthy populations around the world, determining which genes in the pathway control telomere length in normal cells, evaluating differences in telomere length in cells derived from different tissues in the same individual, comparing different laboratory methods for measuring telomere length, and studying whether variations in these genes or in telomere length are important risk factors for non-hereditary cancers. These research activities have been facilitated through collaboration with other DCEG scientists from outside the Clinical Genetics Branch. Thus, Dr. Savage’s interest in this fascinating biological pathway has become a Division-wide activity addressing multiple aspects of this new and rapidly developing field of study. We are hopeful that short telomeres as a diagnostic test for DC and the new DC gene are just the beginning of a series of important results from CGB’s newest research program.

Telomere Biology Publications:


Clinical Genetics Branch Staff Continues to Grow…

The Clinical Genetics Branch has grown considerably during the past several years. We have been joined by a stellar group of talented and experienced Staff Clinicians and Fellows including:

  • Christine M. Mueller, DO, board-certified family practitioner and medical geneticist, joined the CGB in July 2004 as a post-doctoral Cancer Genetics Research Fellow. Dr. Mueller participates in research and clinical activities related to the Breast Imaging Study, the HBOC Family Study, the Familial Testicular Cancer Study and the Inherited Bone Marrow Failure study.
  • Larissa Korde, MD, MPH, board-certified in internal medicine and medical oncology, joined the CGB in October 2005 as a Staff Clinician. She has a special interest in the prevention and early detection of familial and hereditary breast and ovarian cancer, is Co-Principal Investigator on our national Osteoporosis Prevention Trial for women undergoing surgical menopause, and the Lead Investigator on the Familial Testicular Cancer project.
  • Phuong Mai, MD, MS, board-certified in internal medicine and medical oncology, joined the CGB in October 2006 as a Staff Clinician. Dr. Mai has completed a special post-doctoral training program in Clinical Cancer Genetics at the City of Hope National Medical Center in Duarte, CA. She is now the Lead Investigator for the main Hereditary Breast/Ovarian Cancer study, and is playing a major role in GOG-199, the National Ovarian Cancer Prevention and Early Detection Study.
  • Lisa Mirabello, PhD, is our newest recruit, having arrived in Rockville in September 2007, after earning her doctorate in molecular population genetics. She will be joining our tenure-track investigator, Dr. Sharon Savage, and working with her on projects related to telomere biology and population genetics, and genetic risk factors related to osteogenic sarcoma.
  • Lindsey Hoskins, MS, LGMFT, licensed marriage and family therapist and doctoral student in Family Studies at the University of Maryland, joined the CGB in September 2006 as a pre-doctoral Clinical Research Fellow. She is doing her PhD thesis on behavioral studies aimed at better understanding communication patterns within families, and the impact of genetic information on young women.

In addition to the scientific and clinical staff, there are exceptional members of the Clinical Genetics Branch who work “behind the scenes,” but without whom we could not function. This group includes:

  • José A. Reyes, Program Specialist, who keeps our branch running smoothly.
  • Deliya Ryan, MPH, Program Manager, provides technical support for all CGB studies, and coordinates IRB-related activities for the Branch.
  • Claudia Giambartolomei, BS, CRTA intern, is involved in several HBOC projects organizing and abstracting data, streamlining data collection, and helping to maintain computerized data files used as the basis for our many analyses.

Each staff member brings a special set of skills and expertise to the Branch, as we build the academic and scientific strength of the program. CGB is better equipped to fulfill its research mission, now that these fine individuals have joined our Program.


CGB Fellow Begins New Research Study

Lindsey HoskinsLindsey Hoskins, MS, LGMFT, a pre-doctoral research fellow from the University of Maryland, has spent the last two summers as a research intern with CGB, first working on the CEGRM project with June Peters, and then conducting an interview study of young BRCA1/2- positive women to learn more about the potential impact of having a mutation and how it affects them in dating and forming relationships. This pilot study involves twelve unmarried women from HBOC families who were tested for BRCA mutations prior to turning 35. Lindsey is investigating the process by which mutation carriers choose to share information regarding their mutation status with new partners, and how that sharing process is experienced. Her analysis of these data is nearly complete, and a manuscript describing her findings is being developed.

Using the information from these interviews, she is planning a follow-up study (guided by the findings of the pilot analysis) to evaluate how these young women think about issues of reproduction and risk-reducing surgery (risk-reducing mastectomy and risk-reducing salpingo-oophorectomy). The second study is scheduled to begin later this year. These are important but unexplored aspects of the lives of mutation-positive women. Projects like this one provide the information we need to better help other young women cope with being a mutation carrier. CGB incorporates studies of genetic counseling, behavioral and psychosocial aspects of being at increased genetic risk of cancer into each of our familial cancer projects.

Counseling, Behavioral and Psychosocial Research Publications: