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PhD, Epidemiology | University of Texas School of Public Health, Houston, TX
MS, Human Genetics & Genetic Counseling | University of Colorado Health Sciences Center, Denver, CO
BS | New York University, Washington Square College, New York, NY
Dr. Jacqueline Hecht is a board-certified medical geneticist with extensive clinical expertise in common birth defects and gene discovery studies in complex birth defects, including nonsyndromic cleft lip and palate, nonsyndromic clubfoot and single gene disorders such as pseudoachondroplasia, a dwarfing condition.
Her lab has translated gene discoveries in animal models and defined the mutational effects on the pathophysiology using next-generation technologies. For example, they have shown that genetic variation in CRISPLD2 is associated with human nonsyndromic cleft lip and palate and that perturbation of CRISPLD2 gene expression causes orofacial abnormalities in zebrafish. She and her team continue to identify the genetic pathways in which CRISPLD2 plays a role in craniofacial development, using both zebrafish and mice. Her lab also uses next-generation technologies to identify the genetic variation contributing to clefting in families.
Dr. Hecht's other research focuses on understanding the molecular mechanisms that contribute to the pathology that underlies pseudoachondroplasia, a dwarfing condition. Her lab has shown that mutations in cartilage oligomeric matrix protein (COMP), a large extracellular matrix protein, are the cause of this dwarfing condition. COMP mutations cause a dominant negative effect such that the mutant protein cannot be exported into the extracellular matrix and is retained in the ER of growth-plate chondrocytes. Using their transgenic MT-COMP mouse, her team defined the molecular mechanisms that contribute to MT-COMP retention, and they are assessing therapeutic interventions to reduce the intracellular load of MT-COMP.
Dr. Hecht is a distinguished teaching professor and vice chair for research in the Department of Pediatrics, McGovern Medical School at UTHealth. She holds the Leah L. Lewis Distinguished Chair and serves as division head of the Pediatric Research Center.