I am originally from Rio de Janeiro, Brazil and I came to the U.S. for Residency and Fellowship training in Pediatric Pulmonology with the goal of becoming a physician scientist. My passion is Cystic Fibrosis. I enjoy taking care of these complex children and I am fascinated by the science behind the consequences of this defective chloride channel. The fact that we still don’t have a cure for this disease and that there are nearly 2,000 different mutations producing a wide range of clinical presentations are my biggest motivation to work in this field. I hope to make contributions to improve the lives of people with this disease and I hope I can one day say CF stands for Cure Found! My major areas of research interest are predicting clinical outcomes in children with a positive newborn screening for Cystic Fibrosis.
a. Retrospective study based on the California database.
b. Hierarchical modeling of clinical prediction.
c. Developing a Sweat Rate test for infants for more accurately diagnose CF and predict clinical outcome.
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses. J Pediatr. 2017 Feb; 181S:S27-S32. e1. View in: PubMed
Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length. Genet Test Mol Biomarkers. 2016 Sep; 20(9):496-503. View in: PubMed
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California. PLoS One. 2016; 11(5):e0155624. View in: PubMed
Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants. J Cyst Fibros. 2015 Nov; 14(6):714-9. View in: PubMed
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn. 2013 Sep; 15(5):710-22. View in: PubMed
Hyperacidity of secreted fluid from submucosal glands in early cystic fibrosis. Am J Physiol Cell Physiol. 2006 Mar; 290(3):C741-9. View in: PubMed
Submucosal gland dysfunction as a primary defect in cystic fibrosis. FASEB J. 2005 Mar; 19(3):431-3. View in: PubMed
CFTR involvement in nasal potential differences in mice and pigs studied using a thiazolidinone CFTR inhibitor. Am J Physiol Lung Cell Mol Physiol. 2004 Nov; 287(5):L936-43. View in: PubMed
Evidence against the rescue of defective DeltaF508-CFTR cellular processing by curcumin in cell culture and mouse models. J Biol Chem. 2004 Sep 24; 279(39):40629-33. View in: PubMed
Discovery of glycine hydrazide pore-occluding CFTR inhibitors: mechanism, structure-activity analysis, and in vivo efficacy. J Gen Physiol. 2004 Aug; 124(2):125-37. View in: PubMed