ASBMR 2019 Gerald D. Aurbach Lecture: From Genes to Genomes to Biology and Health
Richard Lifton, M.D., Ph.D., Rockefeller University
Friday, September 20 | 8:30 a.m. – 9:30 a.m.
Read More About Dr. Lifton and his Lecture
Dr. Richard P. Lifton is the 11th President of The Rockefeller University, where he is also Carson Family Professor and Head of the Laboratory of Human Genetics and Genomics. He has pioneered the use of genetics and genomics to understand fundamental mechanisms underlying human diseases. He is well-known for his discovery that mutations with large effect on human blood pressure act by altering renal salt reabsorption, discoveries that have informed public health efforts and therapeutic strategies used worldwide to prevent heart attacks and strokes, and for his development of exome sequencing for clinical diagnosis and disease gene discovery. Dr. Lifton graduated from Dartmouth College, obtained M.D. and Ph.D. degrees from Stanford University and completed training in Internal Medicine at Brigham and Women’s Hospital. Prior to Rockefeller, he was chair of the Department of Genetics and Sterling Professor at Yale University, where he founded the Yale Center for Genome Analysis. He is a member of the National Academy of Sciences and the National Academy of Medicine, and has served on the governing councils of both organizations. He currently serves on the Scientific Advisory Board of the Simons Foundation for Autism Research, and has previously served on the Advisory Council to the NIH Director, the Scientific Advisory Boards of the Whitehead Institute and the Broad Institute. He also serves on the Board of Directors of Roche and its subsidiary Genentech. He has received numerous awards for his research, including the 2014 Breakthrough Prize in Life Sciences, the 2008 Wiley Prize, and the highest scientific awards of the American Heart Association, the American Society of Nephrology, the Council for High Blood Pressure Research, the International Society for Nephrology and the International Society for Hypertension. He has received honorary doctorates from Northwestern University, Mount Sinai School of Medicine and Yale University.
Despite great effort, the mechanisms underlying many diseases remain unknown, thwarting development of robust approaches to prevention and treatment. In this setting, unbiased genetic and genomic approaches in humans have the ability to establish causal relationships between rare genotypes and traits, identifying specific genes and pathways that may be manipulated for health benefit. Advances in next-generation DNA sequencing provide the opportunity to identify rare mutations with large effect on human traits, permitting investigation of causal mechanisms and opportunities for clinical intervention. We have explored the contributions of de novo mutations, mutations with large effect but incomplete penetrance, multi-locus inheritance and somatic mutations to a wide range of diseases, identifying several hundred new genes in which mutations impart large effect on disease risk. The results suggest that mutation of the vast majority of human genes will have large phenotypic effect, alone or in combination with specific environmental or genetic interactors. Understanding the genetic and environmental contributions to health and disease will define the opportunities for advancing human health.
ASBMR 2019 Louis V. Avioli Lecture: Anabolic Actions of Parathyroid Hormones: Genes, Cells, and Models
Laurie McCauley DDS, PhD, University of Michigan School of Dentistry
Saturday, September 21 | 8:30 a.m. – 9:30 a.m.
Read More About Dr. McCauley and her Lecture
Laurie K. McCauley is the William K. and Mary Anne Najjar Professor and Dean of the School of Dentistry, and Professor in the Department of Pathology at the Medical School at the University of Michigan. Dr. McCauley earned her B.S., D.D.S., M.S. and Ph.D. (Veterinary Pathobiology) all from The Ohio State University. She has had several visiting scientist/professor appointments including the Institut de Genetique et de Biologie Moleculaire et Cellulaire, the École Normale Supérieure de Lyon, and the Center for Experimental Therapeutics and Reperfusion Injury, Brigham and Women’s Hospital, Harvard Medical School. Dr. McCauley is a diplomate of the American Board of Periodontology, a fellow in the American Association for the Advancement of Science, a former council member of the American Society for Bone and Mineral Research (ASBMR), former Associate Editor of the Journal of Bone and Mineral Research (JBMR), a Fellow in the American College of Dentists and the International College of Dentists, and also served on the National Institutes of Health, National Advisory Dental & Craniofacial Research Council. For more than twenty years, Dr. McCauley has led an active research program in hormonal controls of bone remodeling, parathyroid hormone anabolic actions in bone, and prostate cancer skeletal metastasis. Among her many recognitions are the inaugural Paula Stern Achievement award from the ASBMR, a distinguished scientist award from the International Association for Dental Research, The Ohio State College of Dentistry Distinguished Alumnus award, and membership in the National Academy of Medicine.
Parathyroid hormone is the exemplar of an endocrine mediator with profound actions in bone via direct and indirect actions and a complexity of cellular targets. Despite knowledge for decades of its potent anabolic impact in bone, the exact mechanisms of its actions are not yet clearly defined. Gene targeted mouse models have provided insight into the multitude of factors that are involved and new models and insights continue to be described. A coalescence of the multitude of parathyroid hormone findings in bone will be presented and will serve to better inform strategy as options for osteoporotic therapeutics with anabolic and anti-resorptive actions grows.