The 2013-2014 Genomics in Medicine Lecture Series
This eight-lecture series by top experts in oncology and genomics will enhance health-care professionals' understanding of the intersection between genomics and medicine. The series is sponsored by the National Human Genome Research Institute (NHGRI), in collaboration with Suburban Hospital and Johns Hopkins University School of Medicine. Each lecture takes place at Suburban Hospital's lower level auditorium at 8600 Old Georgetown Road in Bethesda, Md. All are welcome to the hour-long lectures, which begin at 8 a.m. on the first Friday of the month. (Note: The June 28 lecture will start at noon. Lectures are not scheduled for July and August.) Advanced registration is not required; however, those requesting continuing medical education (CME) credits are asked to sign in.
Lectures are recorded and posted on GenomeTV and at NHGRI's YouTube channel at a later date.
For more information about the Genomics in Medicine lecture series, please contact Michelle Christ at the Suburban Hospital, firstname.lastname@example.org, or Alice Bailey at NHGRI, email@example.com.
January 3, 2014
Kenneth H. Kraemer, M.D.
Chief, DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Md.
- Review the role of DNA repair in protection from sun damage.
- Understand how study of rare diseases provides information about health in the general population.
- Consider genetic disorders in diagnosis of unusual patients.
December 6, 2013
Electron Kebebew, M.D.
Chief of the Endocrine Oncology Branch, National Cancer Institute, NIH, Bethesda, Md.
Thyroid neoplasms are common in the U.S. population. Thyroid cancer is one of the fastest growing cancer diagnoses in the U.S., in part due to the increasing incidence of thyroid incidentalomas. Genetic and genomic studies have improved our understanding of the causes of thyroid neoplasms. This information is beginning to be applied to help identify the optimal diagnostic and treatment approaches in individual patients with thyroid neoplasms.
- Assess the change in thyroid cancer epidemiology.
- Review our current knowledge on the genetic and genomic changes associated with thyroid cancer initiation and progression.
- Consider the impact of genetic and genomic testing towards personalizing patient care.
November 1, 2013
Louis M. Staudt, M.D., Ph.D.
Deputy Chief, Metabolism Branch, National Cancer Institute, NIH, Bethesda, Md.
Current classification of cancer by histology is being supplanted by molecular diagnostics based on the genomic aberrations in the tumors. The gene expression profile of a tumor and the oncogenic mutations can be used to optimize the choice of drug treatment for each patient. As applied to cancer, precision medicine will ultimately lead to combination therapy that exploits the addiction of cancer cells to constitutively active signaling pathways and other regulatory derangements.
- Learn how current histological classifications of cancer can be subdivided into molecularly distinct subtypes that are biologically and clinically distinct.
- Understand how cancers can become addicted to aberrant signaling pathways for their survival and how to target these addictions therapeutically.
- Understand the scientific principles underlying the choice of combination therapies based on a detailed analysis of cancer genomics and cancer cell pathophysiology.
September 6, 2013
Targeting the Genetic Basis of Kidney Cancer: A Metabolic Disease
W. Marston Linehan, M.D.
Chief of Urologic Surgery and the Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Md.
View the Lecture Video | View Slides
Kidney cancer is not a single disease but encompasses a number of different types of cancer that occur in the kidney, each caused by a different gene with a different histology and clinical course that responds differently to therapy. Each of the seven known kidney cancer genes, VHL, MET, FLCN, TSC1, TSC2, FH, and SDH, is involved in pathways that respond to metabolic stress and/or nutrient stimulation. The VHL protein is a component of the oxygen and iron sensing pathway that regulates HIF levels in the cell. HGF/MET signaling affects the LKB1/AMPK energy sensing cascade. The FLCN/FNIP1/FNIP2 complex binds AMPK and therefore may interact with the cellular energy and nutrient sensing pathways, AMPK-TSC1/2-mTOR and PI3K-Akt-mTOR. TSC1/TSC2 are downstream of AMPK and negatively regulate mTOR in response to cellular energy deficit. FH and SDH play a central role in the mitochondrial tricarboxylic acid (TCA) cycle whose activities are coupled to energy production through oxidative phosphorylation. Mutations in each of these kidney cancer genes result in dysregulation of metabolic pathways involved in oxygen, iron, energy, and/or nutrient sensing, suggesting that kidney cancer is a disease of cell metabolism. Targeting the fundamental metabolic abnormalities in kidney cancer provides a unique opportunity for the development of more effective forms of therapy for this disease.
- Learn about the different types of kidney cancer, and learn that kidney cancer is not a single disease.
- Learn about how to make the diagnosis of the different genetic types of kidney cancer.
- Learn about the kidney cancer gene pathways and learn about the current drugs targeting the kidney cancer gene pathway.
- Learn about the management of VHL-, HPRC-, BHD-, HLRCC-, and SDH-associated kidney cancer.
June 28, 2013
Kathleen A. Calzone, Ph.D., R.N., A.P.N.G., F.A.A.N.
Senior Nurse Specialist (Research), Genetics Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Md.
- Describe the relevance of genomics to nursing practice and education.
- Discuss three findings from the National Nursing Workforce studies which assessed attitudes, practices, receptivity, confidence, and competency in genomics of common disease and family history utilization.
- Explain three strategies for diffusion of genomics into nursing practice.
- List three resources for learning more about genomics.
June 7, 2013
Lee J. Helman, M.D.
Senior Investigator and Head, Molecular Oncology Section, Pediatric Oncology Branch, National Cancer Institute, NIH, Bethesda, Md.
- Recognize the specific tools currently in use that allow for rapid genetic characterization of tumors.
- Identify ways that genetic characterization of tumors has led to specific therapeutic choices.
- Identify specific challenges this approach creates to carrying out clinical studies.
May 3, 2013
Neal Young, M.D., M.A.C.P.
Chief, Hematology Branch, and Director, Trans-NIH Center for Human Immunology, Autoimmunity, and Inflammation, National Heart, Lung, and Blood Institute, NIH, Bethesda, Md.
- Understand telomere biology.
- Recognize telomere syndromes in the clinic.
- Appreciate the chromosome mechanism of oncogenesis in the setting of organ regeneration.
February 7, 2014
Thomas Ried, M.D.
Senior Investigator and Chief of the Cancer Genomic Section, National Cancer Institute, NIH, Bethesda, Md.
- Review the role of genomic imbalances in solid tumors.
- Understand how aneuploidy affects the transcriptome of cancer cells.
- Appreciate how aneuploidy can serve as a molecular marker for improved diagnosis and prognostication.
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Last Updated: February 12, 2014