HIGH-DENSITY MICROARRAY TECHNIQUE IN THE ASSESSMENT OF STROKE SUSCEPTIBILITY IN PATIENTS WITH SICKLE CELL ANEMIA

• Grant number: 12/06438-5
• Support Opportunities: Scholarships in Brazil - Doctorate
• Effective date (Start): June 01, 2012
• Effective date (End): June 21, 2016
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Mônica Barbosa de Melo
• Grantee: Pedro Rodrigues Sousa da Cruz
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated research grant: 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias, AP.TEM
• Associated scholarship(s): 15/13152-9 - HIGH-DENSITY MICROARRAY IN THE ASSESSMENT OF STROKE SUSCEPTIBILITY IN PATIENTS WITH SICKLE CELL ANEMIA: EXTENDING PRIMARY PROPOSAL, BE.EP.DR

Abstract

Although sickle cell anemia results from homozygosity for a single mutation at position 6 of gamma-hemoglobin locus, this disease presents high heterogenity in phenotype, so that different patients may have significantly different clinical outcomes. Virtually all organs may be affected by vascular occlusion, with emphasis on the Central Nervous System (CNS), where are observed transient ischemic attacks, stroke and cerebral hemorrhage, which affect approximately 25% of patients with SCA. Neurological complications are serious and can be fatal in up to 15% of cases. Early identification of patients with sickle cell anemia, susceptible to stroke (CVA) could reduce the risk, possibly preventing the recurrence of heart attacks and potentially reduce their incidence. Therefore, studies aimed at identifying new risk groups for development of stroke in sickle cell patients would be essential to optimize the clinical management of this disease, one of these pathways the molecular approach of this group of patients. Thus, we propose to investigate the presence of copy number variation in allele or "Copy Number Variation" (CNV), using high density microarray in order to identify genomic regions potentially involved in the increased risk of stroke in sickle cell patients.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

CRUZ, PEDRO R. S.; ANANINA, GALINA; GIL-DA-SILVA-LOPES, VERA LUCIA; SIMIONI, MILENA; MENAA, FARID; BEZERRA, MARCOS A. C.; DOMINGOS, IGOR F.; ARAUJO, ADERSON S.; PELLEGRINO, RENATA; HAKONARSON, HAKON; et al. Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergence. SCIENTIFIC REPORTS, v. 9, JUL 26 2019. (08/10596-0, 08/57441-0, 14/00984-3, 12/06438-5, 15/13152-9)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

CRUZ, Pedro Rodrigues Sousa da. Copy number variations (CNVs) in the assessment of stroke susceptibility in patients with sickle cell anemia. 2016. Doctoral Thesis - Universidade Estadual de Campinas (UNICAMP). Instituto de Biologia Campinas, SP.