The inaugural Genomics in Medicine Lecture Series was sponsored by NHGRI, in collaboration with Suburban Hospital and Johns Hopkins. Each lecture was held at Suburban Hospital's lower level auditorium at 8600 Old Georgetown Road in Bethesda, Md. The hour-long lectures began at 8 a.m. on the first Friday of the month, from December 2011 through June 2012.
Advanced registration was not required; however, those requesting continuing medical education (CME) credits were asked to sign in.
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.
The heart of the matter: genomics and cardiovascular disease
Les Biesecker, M.D., Genetic Disease Research Branch, NHGRI
Cardiovascular disease (CVD) is a common cause of morbidity and mortality. While we understand many components of this risk, the ability to provide individualized treatment that maximizes efficacy and minimizes side effects is an elusive goal. Because CVD has high heritability, genomic diagnostic approaches can provide the basis for this by dissecting out the genetically distinct components of this risk.
Genomics in maternal child health
Barbara Biesecker, Ph.D., Social and Behavioral Research Branch, NHGRI
Diagnostic prenatal testing was one of the first promises of genetics. Recent advances have introduced a plethora of genomic technologies offered prior to pregnancy, during pregnancy and in the newborn period. These new applications present bioethical, practical and financial challenges. This talk will explore their implications for individuals, couples, families and communities.
Rational therapeutics for genetic conditions
Hal Dietz, M.D., Johns Hopkins University School of Medicine
The field of human genetics is undergoing a rapid and exciting transition from a largely diagnostic to a therapeutic discipline. Historically, the treatment of genetic disorders has focused on nutritional limitations of a substrate, the purging of a toxic metabolite or compensatory expression of a protein whose deficiency causes disease through gene delivery. More recent therapeutic strategies build upon a precise understanding of the pathogenesis of disease and often exploit basic science discoveries regarding fundamental cellular processes. Examples will be provided that illustrate the strengths and limitations of each approach.
The Shape of Things: Genetics of Complex Traits in Dogs
Elaine Ostrander, Ph.D., Cancer Genetics Branch, NHGRI
Dr. Elaine Ostrander, chief and senior investigator in NHGRI's Cancer Genetics Branch, studies genes important in growth regulation, particularly as it pertains to disease states in humans and canines. She will explain how her group aims to find genes that control the morphologic body plan of the domestic dog - which shows an extraordinary level of variation between breeds - and seeks to identify disease susceptibility genes in dogs. Her group works on the identification of genes that relate to susceptibility to, progression of, and specific outcomes in, individuals with breast and prostate cancer.
What's bugging you? The intersection of genomics and infectious disease
Jonathan Zenilman, M.D., Chief, Infectious Diseases Division, Johns Hopkins University, Bayview Medical Center
Genomics has revolutionized the tools used by clinicians to detect and treat infectious diseases. By sequencing the human microbiome, researchers have identified scores of previously unidentified species, which coexist with their human host, and exploration has begun to understand how disease states alter the host microbial flora. Genomic-based diagnostic testing is more rapid and accurate than traditional cultures, and dramatically changed the clinician and public health approach to sexually transmitted and hospital-acquired infections. Diseases like HIV and hepatitis C are managed using direct measures of viral burden, determined by genomics. Finally, microbial genomics has had a key role in understanding and responding to increased antibiotic resistance.
Stanley Lipkowitz, M.D., Ph.D., Laboratory of Cellular and Molecular Biology, National Cancer Institute
An introduction to genomics: breast cancer diagnosis and treatment will introduce the genomic characterization of breast cancer as currently used in the clinic to define breast cancer subtypes, stratify risk and determine treatment. It will also discuss how these are likely to impact the future management of breast cancer.
Lawrence Brody, Ph.D., Genome Technology Branch, NHGRI
While several factors can influence a woman's risk of breast cancer, the makeup of her genes is the strongest determinant. Rare variants in a small number of breast cancer genes can be associated with a strong family history of breast cancer. A larger number of genes contain common variants that contribute to breast cancer risk in the general population. This lecture will cover how genetics and genomics are used to identify genes associated with breast cancer risk. The current landscape of breast cancer genetics will be described and linked to gene-driven advances in clinical care.
David Valle, M.D., Johns Hopkins University School of Medicine
The Human Genome Project, completed in 2003, and subsequent projects aimed at identifying common human genetic variation, such as the ongoing 1000 Genomes Project, have provided great insights into the genetic makeup of humans. Studies are now underway to determine the contribution of genetic variation to human health and disease and the utility of this information for clinical practice. In his talk, Dr. Valle will summarize the current knowledge of the genome as it relates to human biology and discuss the challenges and opportunities afforded by individualized medicine.
Last Updated: February 5, 2015