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Congenital heart disease: many genes lead to a broken heart

Wednesday, February 12, 2014


Christine M. Seidman, M.D.
Thomas W. Smith Professor of Medicine and Genetics
Investigator, Howard Hughes Medical Institute
Director, Cardiovascular Genetics Center, Brigham and Women’s Hospital
Harvard Medical School and Brigham and Women’s Hospital

Dr. Christine Seidman defines genetic causes of human cardiovascular diseases and explores how genetic variation in the general population influences cardiovascular health. She uses model systems to identify pathways affected by gene mutations and strategies to limit their deleterious effects. By translating these insights into clinical care, Dr. Seidman hopes to improve diagnostic precision and the effectiveness of therapeutic interventions.


The innate immune system is governed by a variety of receptors or sensors that detect microbial pathogens and activate specific signaling pathways. More important, these receptors/sensors also have a great impact on the basic biologic processes that affect cancer, metabolic disorders, inflammation, neurologic disorders, and other diseases. The Ting group first reported on the large human NLR gene family, which comprises regulators of innate immunity and exhibits important regulatory roles in immunity and beyond. These genes provide instructions for making proteins called nucleotide-binding domain and leucine-rich repeat containing (NLR) proteins, which are involved in starting and regulating the immune system’s response to injury, toxins, or invasion by bacteria, viruses, and fungi. The NLR family also affects a number of processes that are involved in sterile inflammation and adaptive immunity. Many of the NLR proteins control immunity by regulating cytokine production (such as the inflammasome products IL-1beta/IL-18 and interferons), while some directly control gene expression (such as the class I and II major histocompatibility genes). Members also regulate diverse cell-death responses such as apoptosis, necrosis, and autophagy, and diverse signaling pathways including NFkB and MAPKs. Dr. Ting will present evidence for the broad biologic and clinical impact of the NLR family and describe findings regarding novel NLRs.

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