Ronit Marom

Ronit Marom, M.D., Ph.D.

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Ronit Marom, M.D., Ph.D.

Assistant Professor

Email

ronit.marom@bcm.edu

Positions

Assistant Professor: Molecular and Human Genetics
Baylor College of Medicine

Addresses

Alkek Building for Biomedical Research (Lab)
: ABBR-R803
Houston, TX 77030
United States
ronit.marom@bcm.edu

Texas Children's Genetics Clinic (Clinic)
: TCH-Clinical Care Center
6701 Fannin Street
Houston, TX 77030
United States
Phone: (832) 822-4280

Education

MD-PhD from Tel Aviv University: Tel Aviv, Israel

Residency at Dana Children's Hospital, Sourasky Medical Center: Tel Aviv, Israel; Pediatrics

Residency at Baylor College of Medicine: Houston, Texas United States; Medical Genetics

Fellowship at Baylor College of Medicine: Houston, Texas United States; Biochemical Genetics

Certifications

Clinical Genetics: American Board of Medical Genetics and Genomics

Biochemical Genetics: American Board of Medical Genetics and Genomics

Professional Statement

I am a physician scientist and a medical-biochemical geneticist with a special interest in skeletal dysplasias. Our group uses mouse models, microscopy imaging techniques and biochemical approaches to study the role of intracellular trafficking in skeletal development and in genetic bone fragility.

Defects in trafficking within the endoplasmic reticulum (ER) -Golgi secretory pathway are associated with childhood-onset, multisystem disorders presenting with diverse phenotypes, including developmental delay, osteopenia, and recurrent fractures. They are caused by pathogenic variants in genes encoding subunits of coat protein complexes (coatomers), motor proteins and accessory molecules that are collectively involved in the sorting and transport of proteins, nucleic acids, and lipids between subcellular organelles.

Ultimately, our goal is to understand the pathophysiology of skeletal dysplasias associated with secretory pathway defects. We aim to identify the temporo-spatial requirements for the secretory pathway during skeletal development, and to understand the physiological changes induced by disruption of intracellular trafficking in bone and cartilage. Additionally, we explore the cellular changes, namely: 1) how dysfunction of the secretory pathway affects the secretion of collagen and other extracellular matrix proteins, and 2) whether alterations in ER stress, autophagy, and cell signaling pathways are involved in the etiology of these disorders. Another focus of the study is to determine whether dysfunction of the secretory pathway alters protein glycosylation and how this may affect bone formation. Lastly, by applying genomic methods we seek to identify new disorders of intracellular trafficking that are associated with bone fragility, and to characterize the clinical spectrum of known disorders, such as COPB2-related osteoporosis with developmental delay (OMIM #619884).