Cardiovascular Disease

Research and Interests





The Seidman laboratory is the research base for a human molecular genetics program co-directed by Christine E. Seidman, MD and Jonathan G. Seidman, PhD. Located within the Departments of Genetics at Harvard Medical School and the Cardiovascular Division of Brigham and Women’s Hospital, the laboratory harnesses and integrates clinical medicine and molecular technologies to define disease-causing gene mutations and genetic variations that increase disease risk. The laboratory also develops and interrogates genetically engineered models to elucidate pathogenetic mechanisms for human disease. Major research projects focus on discovery of the genetic contributions to cardiovascular disease (including dilated and hypertrophic cardiomyopathy, coronary artery disease and congenital heart disease), hearing loss, and lymphedema. Through collaborative interactions with the Cardiovascular Genetics Center (Brigham and Women’s Hospital) and Massachusetts Eye and Ear Infirmary, the Seidman laboratory translates basic research discoveries into better diagnostics and improved management strategies, and opportunities for developing novel therapeutics to treat disease.

Zebrafish EYA4 QuickTime videos

Cardiovascular Diseases

       Cardiomyopathy

                           Hypertrophic Cardiomyopathy

                                    Sarcomere Protein Mutations

                           Dilated Cardiomyopathy

                                    With Conduction System Disease

                                                             Lamin A/C Mutations                                                                                   

Without Conduction System Disease

Sarcomere Protein Mutations

Phospholamban mutations         

                                                With Extra Cardiac Manifestations

                                                            EYA4 Mutations

                           Glycogen Storage Cardiomyopathy

                                             PRKAG2 Mutations

                                             LAMP2 Mutations

                       

Congenital Heart Disease

                           Holt-Oram Syndrome

                                             TBX5 Mutations

Tetralogy of Fallot

                           Atrial or Ventricular Septal Defects

                                             NKX2.5 Mutations

            Coronary Artery Disease

Hearing Loss

              Sensorineural Hearing Loss

Isolated Hearing Loss

         COCH5B2 Mutations

With Extra Auditory Manifestations

     Bjornstad Syndrome (Hearing loss + pili torti)

                           Hearing Loss and Cardiomyopathy

                                                EYA4 Mutations

                  Microtia

Lymphedema



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