Marie E. Grace, PhD
img_Marie E. Grace
ASSISTANT PROFESSOR | Pathology, Molecular and Cell Based Medicine
Research in this laboratory is directed toward the elucidation of the molecular defects in inherited lysosomal storage diseases and to understand the normal cellular function and processes of these enzymes. To this end, techniques of molecular biology, protein biochemistry, enzymology, mutagenesis and heterologous expression are employed to dissect the fundamental defects which are causal to the enzymological and physiological pathologies in Gaucher disease (acid b-glucosidase deficiency) and GM1-Gangliosidosis and Morquio Syndrome Type B (acid b-galactosidase deficiencies). Efforts are directed to:\r\n\r\n
  • Dissecting the structure/function relationships of both lysosomal enzyme/activator complexes using in vitro mutagenesis and characterization of the mutant proteins.\r\n\r\n
  • Elucidating the underlying basis for phenotypic variation in Gaucher disease type 1 by investigating the role of candidate modifier genes.\r\n\r\n
  • Elucidating the underlying basis for phenotypic variation resulting from defects in acid b-galactosidase through investigations of the binding affinities and catalytic site(s) of this enzyme with respect to its primary substrates: ganglioside-GM1 (accumulates in GM1-Gangliosidosis) and keratan sulfate (accumulates in Morquio Syndrome Type B).\r\n\r\n
  • Engineering more effective therapeutic agents for enzyme therapy by identification of important signals for tissue specific uptake and intracellular targeting.\r\n\r\n
  • Enhancing the ability to predict disease severity by further refinement of genotype/phenotype correlations\r\n
  • Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.

    Dr. Grace did not report having any of the following types of financial relationships with industry during 2022 and/or 2023: consulting, scientific advisory board, industry-sponsored lectures, service on Board of Directors, participation on industry-sponsored committees, equity ownership valued at greater than 5% of a publicly traded company or any value in a privately held company. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

    Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.