Christina Jacobsen, MD, PhD
Executive Director, Skeletal Health Center; Attending Physician, Divisions of Endocrinology & Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School
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Christina Jacobsen, MD, PhD
Executive Director, Skeletal Health Center; Attending Physician, Divisions of Endocrinology & Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Education
Medical School
Washington University School of Medicine
2005
St. Louis
MO
Internship
Pediatrics
Boston Children's Hospital
2006
Boston
MA
Residency
Pediatrics
Boston Children's Hospital
2007
Boston
MA
Fellowship
Pediatric Endocrinology and Genetics
Harvard Medical School/Boston Children's Hospital
2011
Boston
MA
Certifications
American Board of Medical Genetics and Genomics (Clinical Genetics)
American Board of Pediatrics (General)
American Board of Pediatrics (Endocrinology)
Professional History
Dr. Christina Jacobsen is a pediatric endocrinologist and geneticist with a particular interest in genetic bone diseases including osteogenesis imperfecta and skeletal dysplasia as well metabolic bone disease. She sees patients in Endocrinology and with the Orthopedic Surgeons in the Orthopedic clinic.
Publications
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. View Abstract
Case 21-2024: A 10-Month-Old Boy with Vomiting and Hypercalcemia. View Abstract
Genetics of skeletal proportions in two different populations. View Abstract
4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. View Abstract
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). View Abstract
Single-Cell RNA Sequencing of Calvarial and Long-Bone Endocortical Cells. View Abstract
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. View Abstract
Combination therapy in the Col1a2G610C mouse model of Osteogenesis Imperfecta reveals an additive effect of enhancing LRP5 signaling and inhibiting TGFß signaling on trabecular bone but not on cortical bone. View Abstract
Retinoic-acid-induced osteogenesis of hiPSCs. View Abstract
The Outcomes of Nonelongating Intramedullary Fixation of the Lower Extremity for Pediatric Osteogenesis Imperfecta Patients: A Meta-analysis. View Abstract
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. View Abstract
Application of anti-Sclerostin therapy in non-osteoporosis disease models. View Abstract
Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta. View Abstract
Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta. View Abstract
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. View Abstract
Reply to Lrp5 regulation of bone mass and gut serotonin synthesis. View Abstract
Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta. View Abstract
Copy number variation plays an important role in clinical epilepsy. View Abstract
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. View Abstract
Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome. View Abstract
An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: applications in mice with bone property altering Lrp5 mutations. View Abstract
Proximal tibial pain in a child. View Abstract
Proximal tibial pain in a child. View Abstract
Lrp5 functions in bone to regulate bone mass. View Abstract
Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. View Abstract
Craniocerebral trauma--congruence between post-mortem computed tomography diagnoses and autopsy results: a 2-year retrospective study. View Abstract
Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. View Abstract
Short stature in a phenotypic male caused by mixed gonadal dysgenesis. View Abstract
GATA-4:FOG interactions regulate gastric epithelial development in the mouse. View Abstract
Transcription factor GATA-6 is expressed in the endocrine and GATA-4 in the exocrine pancreas. View Abstract
GATA-4, GATA-5, and GATA-6 activate the rat liver fatty acid binding protein gene in concert with HNF-1alpha. View Abstract
Genetic mosaic analysis reveals that GATA-4 is required for proper differentiation of mouse gastric epithelium. View Abstract
Locations