Carolina Galarreta Aima, M.D.
Staff Clinician
Organic Acid Research Section
Education
M.D. Universidad Nacional de Trujillo, Trujillo, Peru
Last updated: November 6, 2023
Scan to visit
Organic Acid Research Section
M.D. Universidad Nacional de Trujillo, Trujillo, Peru
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist. She completed her pediatric residency at the University of Miami/Jackson Memorial Hospital and went on to the University of California in San Diego to complete her medical genetics and genomics fellowship training. She subsequently moved to Bethesda to complete her training in Medical Biochemical Genetics, at NHGRI. Following this, she spent three years as an attending physician in Genetics and Metabolism at Valley Children’s Hospital in Madera, California. In 2023, she joined as a Staff Clinician in Dr. Charles Venditti’s Organic Acid Research Section in the Metabolic Medicine Branch at NHGRI.
Dr. Galarreta’s research interests have encompassed several areas, including phenotyping and natural history of rare diseases, epidemiology of birth defects related to the VACTERL association, and investigations into renal tubular adaptations in response to various stressors. Currently, her primary focus is on conducting clinical research studies in organic acidemias in Dr. Venditti’s lab.
Galarreta CI, Hoyt E, Forero L, Curry CJ, Bird LM. Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes. Am J Med Genet A. 2023. Epub 2023/08/31. doi: 10.1002/ajmg.a.63382.
Galarreta CI, Wong K, Carmichael J, Woods J, Tise CG, Niehaus AD, et al. A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder. Am J Med Genet A. 2023;191(8):2057-63.
Galarreta CI, Kennedy C, Blair DR, Slavotinek A. Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype. Am J Med Genet A. 2022;188(9):2724-31.
Manoli I, Pass AR, Harrington EA, Sloan JL, Gagné J, McCoy S, Bell SL, Hattenbach JD, Leitner BP, Duckworth CJ, Fletcher LA, Cassimatis TM, Galarreta CI, Thurm A, et al. Correction to: 1-(13) C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA). Genet Med. 2021;23(11):2233.
Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, Carroll J, Cham E, Chowdhury S, Cleary J, D'Harlingue A, Doshi A, Ellsworth K, Galarreta CI, Hobbs C, et al. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021;108(7):1231-8.
Galarreta CI, Vaida F, Bird LM. Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study. Am J Med Genet A. 2020;182(6):1351-63.
Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, et al. Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. NPJ Genom Med. 2019;4:5.
Galarreta CI, Wigby KM, Jones MC. Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review. Clin Dysmorphol. 2019;28(4):175-83.
Galarreta CI, Forbes MS, Thornhill BA, Antignac C, Gubler MC, Nevo N, et al. The swan-neck lesion: proximal tubular adaptation to oxidative stress in nephropathic cystinosis. Am J Physiol Renal Physiol. 2015;308(10):F1155-66.
Galarreta CI, Grantham JJ, Forbes MS, Maser RL, Wallace DP, Chevalier RL. Tubular obstruction leads to progressive proximal tubular injury and atubular glomeruli in polycystic kidney disease. Am J Pathol. 2014;184(7):1957-66.
Last updated: November 6, 2023