ABOUT THE LAB
The Laboratory of Human Genetics (LEGH) develops two main lines of research.
Genetic bases of sickle cell anemia complications: it aims at unveiling the genetic bases of sickle cell anemia complications, such as stroke, leg ulcer, sickle cell retinopathy, and pregnancy associated complications. With state-of-the-art technologies we seek to identify genes that stand out between individuals with and without a given complication and that may in the future serve as biological markers, as well as validating them in an animal model.
Genetic bases of ocular diseases: it aims to understand the genetic aspects of the main ocular diseases that cause blindness, such as adult primary glaucoma, congenital glaucoma, age-related macular degeneration and congenital cataract. Currently, among the ophthalmological disorders, the main focus of LEGH is primary open-angle glaucoma (POAG). We are working on the validation of variants identified in other populations, as well as trying to identify new genes in the Brazilian population in families or through association studies.
PRINCIPAL RESEARCHER
Profa. Dra. Mônica Barbosa de Melo
Coordinator
LINES OF RESEARCH
🧑🔬 Genetic bases of sickle cell anemia complications
🧑🔬 Genetic bases of ocular affections
ACCREDITED GRADUATE PROGRAMS
- Graduate Program in Medical Sciences, University of Campinas (UNICAMP)
- Graduate Program in Internal Medicine, University of Campinas (UNICAMP)
TEAM
Prof. Dr. Mônica Barbosa de Melo
Researcher and Coordinator
melomb@unicamp.br
(19) 35211143
Prof. Dr. José Paulo Cabral de Vasconcellos
Associated Researcher
Departamento de Oftalmologia e Otorrinolaringologia/FCM
Daniela Stancato
Laboratory Technician
stan@unicamp.br
(19) 35211135
Dr. Sueli Matilde da Silva Costa
Collaborator Researcher CBMEG
Dr. Galina Ananina
Colaborator CBMEG
Prof. Dr. Fernando Ferreira Costa
Collaborator Hemocentro (UNICAMP)
Prof. Dr. Pedro Rodrigues Sousa da Cruz
Collaborator Instituto Federal do Paraná
Dr. Ana Carolina Lima Camargo
Post-Doctoral Researcher
Thiago Adalton Rosa Rodrigues
PhD student
Júlia Nicoliello Pereira de Castro
Master's student
Ana Rafaela Carvalho Monte
Master's student
Gabrielle Maria Giovanna da Silva Gonçalves
Technical Support (scholarship TT3)
SERVICES
Investigation of alterations in genes associated with primary congenital glaucoma (CYP1B1 gene), primary open angle glaucoma (MYOC gene) and developmental glaucomas (FOXC1 and PITX2 genes).
The search for variants in the specified genes will be performed by direct DNA sequencing - Under implementation
SELECTED PUBLICATIONS
DA CRUZ PRS, ANANINA G, SECOLIN R, DA-SILVA-LOPES VL, LIMA CSP, DE FRANÇA PHC, DONATTI A, LOURENÇO GJ, DE ARAUJO TK, SIMIONI M, LOPES-CENDES I, COSTA FF, DE MELO MB. Demographic history differences between Hispanics and Brazilians imprint haplotype features. G3 (Bethesda). 2022 Jul 6;12(7):jkac111. doi: 10.1093/g3journal/jkac111.
VITURINO MG, NETO JM, BAJANO FF, COSTA SM, ROQUE AB, BORGES GF, ANANINA G, RIM PH, MEDINA FM, COSTA FF, VASCONCELLOS JP, MELO MB. Evaluation of APOE polymorphisms and the risk for age-related macular degeneration in a Southeastern Brazilian population. Exp Biol Med (Maywood). 2021 May;246(10):1148-1155. doi: 10.1177/1535370220985466
ITO MT, DA SILVA COSTA SM, BAPTISTA LC, CARVALHO-SIQUEIRA GQ, ALBUQUERQUE DM, RIOS VM, OSPINA-PRIETO S, SAEZ R, VIEIRA KP, CENDES F, OZELO MC, SAAD STO, COSTA FF, MELO MB. Angiogenesis-related genes in endothelial progenitor cells may be involved in sickle cell stroke. J Am Heart Assoc. 2020;9(3):e014143. doi: 10.1161/JAHA.119.014143.
BAPTISTA LC, COSTA ML, SURITA FG, ROCHA CS, LOPES-CENDES I, SOUZA BB, COSTA FF, MELO MB. Placental transcriptome profile of women with sickle cell disease reveals differentially expressed genes involved in migration, trophoblast differentiation and inflammation. Blood Cells Mol Dis. 2020 Sep;84:102458. doi: 10.1016/j.bcmd.2020.102458.
HAUSER MA, ALLINGHAM, RR, AUNG T, VAN DER HEIDE CJ, ROTTER JI, WANG SH, ... MELO MB, ... KHOR CC.APBB2 is a significant risk locus for primary open angle glaucoma in individuals of African ancestry. JAMA. 2019;322(17):1682-1691. doi: 10.1001/jama.2019.16161
CRUZ PRS, ANANINA G, GIL-DA-SILVA-LOPES VS, SIMIONI M, MENAA F, BEZERRA MAC, DOMINGOS IF, ARAÚJO AS, PELLEGRINO R, HAKONARSON H, COSTA FF, MELO MB. Genetic comparison of sickle cell anaemia cohorts from Brazil and United States reveals high levels of divergence. Sci Rep. 2019;9(1):10896. doi: 10.1038/s41598-019-47313-2.
CARVALHO-SIQUEIRA GQ, ANANINA G, SOUZA BB, BORGES MG, ITO MT, SILVA-COSTA SM, DOMINGOS IF, FALCÃO DA, LOPES-CENDES I, BEZERRA MAC, ARAÚJO AS, LUCENA-ARAÚJO AR, GONÇALVES MS, SAAD STO, COSTA FF, MELO MB. Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients. Exp Biol Med. (Maywood) 2019; 244(11):932-39. doi: 10.1177/1535370219849592.
OLIVEIRA MB, VASCONCELLOS JPC, ANANINA G, COSTA VP, MELO MB. Association between IL1A and IL1B polymorphisms and primary open angle glaucoma in a Brazilian population. Exp Biol Med. (Maywood) 2018;243(13):1083-91. doi: 10.1177/1535370218809709.
MARQUES AM, ANANINA G, COSTA VP, VASCONCELLOS JPC, MELO MB. Estimating the age of the Cys433Arg mutation in the MYOC gene in patients with primary open angle glaucoma. PLoS One. 2018;13(11):e0207409. doi: 10.1371/journal.pone.0207409.
KHOR CC, DO T, JIA H, NAKANO M, GEORGE R, ABU-AMERO K, DUVESH R, CHEN LJ, LI Z, NONGPIUR ME, PERERA SA, QIAO C, WONG H, SAKAI H, MELO MB et al. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nature Genet. 2016; 48(5):556-62. doi: 10.1038/ng.3540.
CONTACT
Doctor Mônica Barbosa de Melo
Researcher
Email: melomb@unicamp.br
Av. Cândido Rondon, 400 - Cidade Universitária, Campinas - SP, 13083-875
Group Photos
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