Faculty Mentors:
Scott Solomon, Calum MacRae, Carolyn Ho, Raymond Kwong

Our imaging group has had a long-standing interest and experience in integrating imaging to characterize clinical phenotype and cardiovascular genetics. In fact, two of our mentors have had formal training in Cardiovascular Genetics in the Seidman Laboratory and also in cardiac imaging (Solomon and Ho). Much of our imaging work has been focused in hypertrophic cardiomyopathy (HCM) and has led to a number of important observations including the demonstration of preclinical phenotypes in genotype positive family members of probands with HCM. In addition, Drs. Kwong and Ho are the leaders of the MRI and biomarkers core laboratories of the NHLBI-funded prospective registry in HCM entitled ‘Novel Markers of Prognosis of Hypertrophic Cardiomyopathy (HCMR)’. This study will collect detailed genetics, biomarker, imaging data, and outcomes in over 2,700 patients with HCM. Finally, Dr. Solomon is the director of the cardiovascular imaging reading center and a steering committee member for the NHLBI funded Atherosclerosis Risk in Communities (ARIC) and Hispanic Community Health-Study of Latinos (SOL) Studies and has access to the broad phenotypic and genetic information available in these cohorts, along with a comprehensive echocardiographic evaluation in each participant. This work has led to several publications relating genetics to cardiac structure and function and cardiovascular outcomes.

Scott Solomon (Clinical ProfileResearch Profile) has expertise in echocardiography and access to phenotypic, genotypic and imaging data from large epidemiologic studies (ARIC and SOL). These NIH cohort studies represent an enormously rich source for genotype-phenotype correlation and gene discovery. In fact, ARIC currently has performed Genome Wide Association Studies in all participants and complete exome sequencing in ~8500 participants, with substantial overlap with the recently completed imaging of the visit 5 cohort (n = 6250). In collaboration with Dr. MacRae, he has formed a Cardiovascular Imaging Working Group to utilize the ARIC and SOL genetic and imaging data. All ARIC phenotypic and outcomes data are housed on site, and genetic data are maintained in the Harvard University high-capacity computing cluster. Computational approaches to phenotype classification that have been used in prior genetic studies are being adapted for use in these large phenotypic datasets.

Calum MacRae (Clinical Profile, Research Profile, Lab Site) is an expert in cardiovascular genetics. He uses both human genetics and model organisms to explore disease mechanisms, identify genetic and chemical modifiers and translate these insights where possible back to the original human cohorts. As mentioned above, he has a strong interest in the phenotypic information from advanced imaging studies and already has active collaborations with all other mentors in this thematic area.

Carolyn Ho (Clinical Profile, Research Profile) is the medical director of the BWH Cardiovascular Genetics Center and also has expertise in echocardiography. Her research focuses on developing clinical translational studies, using genetics and advanced imaging techniques to characterize early phenotypes and to design new treatment paradigms to change the natural history of inherited cardiomyopathies, especially HCM. She has active collaborations with Drs. MacRae, Solomon, and Kwong. Her lab is currently leading the biomarker discovery program within the NHLBI funded HCM registry that we hope will provide complementary information to advanced imaging approaches to early diagnosis and risk stratification in HCM.

Raymond Kwong (Clinical ProfileResearch Profile) has a strong interest in using MRI to characterize pre-clinical abnormalities in structure-function in patients and families with sarcomere mutation without clinical manifestations of disease. Drs. Kwong and Ho have a long track record of research collaboration in HCM, which is now expanded by the recently funded HCM registry as described above.

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