Department: Cardiovascular Research Institute
Physical work location: 1470 Madison Ave Hess Bldg 7th Fl New York NY 10029
Name PI or Supervisor: Tanner O. Monroe PhD
Web link to Lab:
Web link to Department: Contact: Christopher Chan PhD
Details of Research Project:
The predominant myosin heavy chain expressed in human heart beta-MyHC is encoded by the MYH7 gene. MYH7variants are well described in hypertrophic cardiomyopathy and less frequently seen in dilated cardiomyopathy. A recent series of publications link variants in the 5 end of the MYH7 gene as implicated in left ventricular noncompaction cardiomyopathy often in the setting of a dilated ventricle with impaired function. Importantly premature truncations as well as missense variation within the MYH7 gene has been linked to LVNC in both population studies and in individuals and families. We hypothesize that specific missense variants identified in LVNC are associated with reduced contractility rather than hyperdynamic MYH7 variants seen in hypertrophic cardiomyopathy. Additionally many missense variants in MYH7 are considered variants of uncertain significance and methods such as those being used here may help adjudicate variants of risk.
Technical Duties:
The candidate will evaluate the performance of missense MYH7 variants associated with LVNC in engineered heart tissues use statistical genetics approaches to better understand the distribution of these variants in the population and perform unbiased sequencing assays to link these variants to other known LVNC risk genes.
Educational and other Requirements for the position:
PhD in Biomedical Science or a closely related field
Experience Required:
Evidence of high-level scholarship and related technical expertise
Goals/Outcomes of the Research Project:
The goal is to better understand how these LVNC-MYH7 variants influence the motor activity of beta-MyHC and to spur further investigations linking sarcomeric LVNC to other genetic risk mediators for the condition.
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