Postdoctoral Fellow-MSH-32074-060

Mount Sinai Health SystemNew York, NY
16hOnsite

About The Position

The predominant myosin heavy chain expressed in human heart, beta-MyHC, is encoded by the MYH7 gene. MYH7 variants 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.

Requirements

  • PhD in Biomedical Science or a closely related field
  • Evidence of high-level scholarship and related technical expertise

Responsibilities

  • 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
  • perform unbiased sequencing assays to link these variants to other known LVNC risk genes.
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