Carla Rosenberg

Carla Rosenberg

Possui mestrado em Ciências Biológicas (1984) e doutorado em Genética (1989) pela Universidade de São Paulo. Realizou pós-doutorado na Universidade Johns Hopkins (EUA).Foi Professora Assistente da Johns Hopkins University, Professora Associada  de Leiden University Medical Center, Holanda (1996-2004) e pesquisadora sênior no Hospital do Câncer A.C. Camargo (2008). Desde março de 2009 é docente do Departamento de Biologia do Instituto de Biociências da Universidade de São Paulo. É membro de consórcios internacionais que visa investigar o impacto dos desequilíbrios genômicos em doenças (Database of Chromosomal Imbalances and Phenotype in humans using Ensemble Resources – DECIPHER) e os padrões para uso clínico de arrays (International Standards for Cytogenomic Arrays –ISCA).

Linha de pesquisa

Como pesquisadora, investiga desequilíbrios genômicos humanos (copy number variations) e seu impacto em doenças genéticas, incluindo predisposição a doenças comuns, tais como câncer e Alzheimer. Tem experiência e publicou ~110 trabalhos (H=37) na área de Genética e Citogenética humana, com ênfase em FISH e arrays genômicos, atuando principalmente no diagnóstico de deficiência intelectual e anomalias congênitas. 

10 publicações principais

1. Krepischi AC, Pearson PL, Rosenberg C. Germline copy number variations and cancer predisposition. Future.Oncol. 2012; 8:441-450

2. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am.J Hum.Genet. 2010; 86:749-764

3. Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C. Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenet.Genome Res. 2006; 115:254-261

4. Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van Haeringen A, Szuhai K, Tanke HJ. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J.Med.Genet. 2006; 43:180-186

5. Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de SR, Carter NP. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat.Genet. 2006; 38:1032-1037

6. Fodde R, Kuipers J, Rosenberg C, Smits R, Kielman M, Gaspar C, van Es JH, Breukel C, Wiegant J, Giles RH, Clevers H. Mutations in the APC tumour suppressor gene cause chromosomal instability. Nat.Cell Biol. 2001; 3:433-438

7. Rosenberg C, Van Gurp RJ, Geelen E, Oosterhuis JW, Looijenga LH. Overrepresentation of the short arm of chromosome 12 is related to invasive growth of human testicular seminomas and nonseminomas. Oncogene 2000; 19:5858-5862

8. van Dekken H, Geelen E, Dinjens WN, Wijnhoven BP, Tilanus HW, Tanke HJ, Rosenberg C. Comparative genomic hybridization of cancer of the gastroesophageal junction: deletion of 14Q31-32.1 discriminates between esophageal (Barrett’s) and gastric cardia adenocarcinomas. Cancer Res. 1999; 59:748-752

9. Rosenberg C, Florijn RJ, Van de Rijke FM, Blonden LA, Raap TK, van Ommen GJ, den Dunnen JT. High resolution DNA fiber-fish on yeast artificial chromosomes: direct visualization of DNA replication. Nat.Genet. 1995; 10:477-479

10. Rosenberg C, Blakemore KJ, Kearns WG, Giraldez RA, Escallon CS, Pearson PL, Stetten G. Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique. Am.J.Hum.Genet. 1992; 50:700-705