Dr. Cynthia A. James is an Associate Professor of Medicine (Cardiology) and of Genetic Medicine and a certified genetic counselor (CGC) at the Johns Hopkins University School of Medicine. She is the Research Director of both the Johns Hopkins Center for Inherited Heart Diseases and the Johns Hopkins ARVC Precision Medicine Center of Excellence.
Her research focuses on
- investigating the interplay of genotype and environmental factors on clinical outcomes in arrhythmogenic cardiomyopathies,
- defining the genetic architecture of inherited cardiomyopathies, and
- improving cardiovascular genetic counseling service delivery and outcomes.
She is the PI of an NIH-funded 3-arm randomized clinical trial testing the impact of post-test focused genetic counseling models on patient empowerment, psychosocial, and medical outcomes as well as on genetic counseling efficiency (RESEQUENCE-GC; NCT05422573) and leads the international multicenter cardiovascular genetics outcome study. She also leads an international investigation of DSP-cardiomyopathy and has led development and refinement of a risk prediction model for incident sustained ventricular arrhythmias to support shared decision-making for ICD implantation in patients with ARVC. In these efforts, Dr. James enjoys collaborating with a multidisciplinary group of colleagues from the Johns Hopkins Departments of Medicine and Genetic Medicine, the Bloomberg School of Public Health and the Berman Institute of Bioethics as well as numerous cardiovascular genetics colleagues across the country and abroad.
Dr. James has been published extensively, and her work has been recognized most recently with the Zurich Arrhythmogenic Cardiomyopathy Clinical Science Research Award (2022), funding from both NHGRI and NHLBI, and a Johns Hopkins Catalyst Award. She serves on the Executive Committee of the Johns Hopkins / National Institutes of Health Genetic Counseling Training Program and is a thesis advisor for this program. She is a dedicated research mentor, supporting clinical, genetics, and genetic counseling studies being pursued by cardiology fellows, medical residents, genetic counseling students, and staff genetic counselors both inside and outside of Johns Hopkins. She is extensively engaged in the cardiovascular genetics community serving as a member of the National Society of Genetic Counselors Board of Directors, The Jane Engelberg Memorial Fellowship Executive Committee, the ClinGen Cardiovascular Domain Executive Leadership, and as an active member of the Heart Rhythm Society including authoring numerous professional guidelines.
Dr. James received her undergraduate degree in biology from Cornell University in Ithaca, NY. She earned her Sc.M. in Genetic Counseling at Johns Hopkins School of Public Health and her Ph.D. in Human Genetics at Johns Hopkins University. Dr. James joined the Johns Hopkins faculty in 2013 after a decade as a practicing genetic counselor in the Johns Hopkins ARVC program.
Dr. James thoroughly enjoys mentoring research and welcomes new students, staff, and fellows. For research inquiries please contact Dr. James at: [email protected].