Ronit Marom, M.D., Ph.D.
Assistant Professor
Positions
- Assistant Professor
-
Molecular and Human Genetics
ÌÇÐÄÊÓƵ of Medicine
Addresses
- Texas Children's Genetics Clinic (Clinic)
-
TCH-Clinical Care Center
6701 Fannin Street
Houston, TX, 77030
United States
Phone: (832) 822-4280
- Alkek Building for Biomedical Research (Lab)
-
ABBR-R803
Houston, TX, 77030
United States
ronit.marom@bcm.edu
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 ÌÇÐÄÊÓƵ of Medicine
- Houston, Texas, United States
- Medical Genetics
- Fellowship at ÌÇÐÄÊÓƵ 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).
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).
Selected Publications
-
Marom R, Song IW, Busse EC, et al.. " " J Clin Invest. 2024 Jun ;
Pubmed PMID: . -
Marom R, Zhang B, Washington ME, et al.. " " PLoS Genet. 2023 Nov ;
Pubmed PMID: . -
Marcogliese PC, Deal SL, Andrews J, et al.. " " Cell Rep. 2022 Mar ;
Pubmed PMID: . -
Marom R, Burrage LC, Venditti R, et al.. " " Am J Hum Genet. 2021 Sep ;
Pubmed PMID: .
Funding
-
Elucidating the role of coatomer complex COPI in skeletal dysplasia
#K08 HD108381 - NIH/NICHD
to edit your profile