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The Human Genome Research Center

Grant number: 98/14254-2
Support type:Research Grants - Research, Innovation and Dissemination Centers - RIDC
Duration: October 01, 2000 - May 31, 2013
Field of knowledge:Interdisciplinary Subjects
Principal researcher:Mayana Zatz
Grantee:Mayana Zatz
Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Pesquisadores principais:
Angela Maria Vianna Morgante ; Celia Priszkulnik Koiffmann ; Eliana Maria Beluzzo Dessen ; Jose Mariano Amabis ; Maria Rita dos Santos e Passos Bueno ; Mariz Vainzof ; Paulo Alberto Otto
Associated grant(s):12/17150-2 - ASBMR 2012 Annual Meeting, AR.EXT
10/52446-4 - Investigation of the role of oxidative stress ND the CNBP protein in treacle-deficient mesenchymal stem-cells and in zebrafish models, AP.R
07/50243-6 - Identification by array-cgh of new candidate regions in patients with utero-vaginal defects., AR.EXT
+ associated grants 06/57982-6 - Developmentally regulated expression of a 28-kda peptide in the rat brain., AR.EXT
06/57220-9 - Dissection of the roles of collybistin, a neuron enriched gdp-gtp exchange factor, in synapse formation and function., AR.EXT
06/56208-5 - Galectin-1 and 3 expressions in patients with mutations in the fkrp gene., AR.EXT
03/09240-2 - Carla Rosenberg | Leiden University Medical Center - Holanda, AV.EXT - associated grants
Associated scholarship(s):11/23653-4 - Epigenetic and microRNAs analysis in the DNA repair pathway dysregulation in non syndromic cleft lip-palate patients, BP.DD
11/15543-4 - Identification and study of genes associated to the dystrophic phenotype, BP.MS
11/14293-4 - Characterization of apparently balanced chromosomal rearrangements and of its association to the phenotype of carriers, BP.DR
+ associated scholarships 11/12486-0 - Analysis of imprinted gene expression and chromosome microimbalances in growth disorders accompanied or not by intellectual disability, BP.DR
11/07274-3 - Study of the relationship between the ectopic expression of the epithelial isoform of FGFR2 and the epithelial-mesenchymal transition, BP.IC
10/19843-0 - Comparision of miogenic potencial between adipose-derived stem cells from differents body regions, BP.IC
10/07662-0 - Evaluation of the potential use of substance P as a chemotactic agent for mesenchymal stem cells in different forms of progressive muscular dystrophy, BP.IC
10/02245-2 - Identification of signaling pathways related to predisposition for non syndromic cleft lip and/or palate., BP.IC
10/01672-4 - Analysis of SNP rs987525 (8q24.21) and susceptibility for nonsyndromic cleft lip and/or palate in the Brazilian population, BP.IC
09/11756-3 - Murine embryonic stem cells: induction to myogenic lineage and characterization., BP.IC
09/11515-6 - Study of the regenerative capacity of sattelite cells from different dystrophic mice models, BP.DR
09/04053-6 - Tuberous sclerosis hamartin and tuberin protein complex in renal epithelial cells., BP.MS
09/03341-8 - Genetic study on Silver-Russell syndrome, BP.MS
09/04183-7 - Investigation of predisposition genes to cleft lip with or without cleft palate in Brazilian population., BP.MS
09/03480-8 - Characterization of apparently balanced chromosomal rearrangements associated with clinical phenotypes: breakpoint mapping and screening for submicroscopic deletions and duplications, BP.MS
07/04337-9 - Genetic study on Silver-Russell syndrome, BP.IC
05/52039-1 - Sotos syndrome: microdeletions and intragenic mutations in the NSD1 gene studies, BP.MS - associated scholarships

Abstract

a) Description of the Center and its characteristic features. The Center will focus on three main aspects: basic research on the human genome focusing on genetic disorders and normal population variation in different ethnic groups: A) genetic service directed to families with affected patients or ‘at-risk’ for genetic disorders. This service aims at the prevention of genetic disorders (through identification of ‘at-risk’ couples. genetic counseling and prenatal diagnosis) and also constitutes the source for human genetic studies; transfer of knowledge at all levels: to the population through genetic counseling, to under graduate, graduate and post-doctoral students, to medical and health professionals, to journalists and to high school teachers and students; B) definition of research focus and of its multidisciplinary connections. The research will focus on the human genome, specifically on the normal population variation in different ethnic groups and genetic disorders. It is a multidisciplinary research which requires expertise in different scientific fields such as molecular biology in human and animal models, cytogenetic analysis, protein studies, clinical and neurological examination, psychiatric and psychological evaluations, and studies on human ecology and diversity of different Brazilian populations; C) description of planned technology transfer and educational activities and of their relationship to the research focus. The center will immediate benefit the population through services and wide ranging education programs: affected families with genetic disorders who will be studied in the center by a multidisciplinary team and who will benefit from an immediate transfer of the advances in cytogenetic and molecular technology. Advanced courses directed to graduate and post-graduate students and researchers interested in molecular biology technology and/or biological anthropology; short courses directed to: high school teachers, high school students, medical and health professionals and journalists; production of videos, study guides, laboratory manuals, software’s etc… as well as a scientific journal summarizing Information on the scientific and educational activities of the center; D) brief justification for the creation of a research center. The importance of studying and improving our understanding on the HUMAN GENOME is unquestionable. The creation of a research center would contribute to achieving this goal through the close collaboration of Brazilian and international researchers with expertise and experience in different fields. A tremendous effort and amount of money is being spent on different genome projects throughout the world, aiming at gene mapping and sequencing of human and other organisms' genomes. The understanding of gene functioning requires studies that integrate cytogenetic and molecular analyses, studies of gene structure and products (at the RNA and protein levels) and the correlation of genetic and phonotypical traits. The latter is mainly carried out within the context of genetic disorders. Through the integration of research in genetics and biological anthropology, the center will also aim at investigating the genetic basis of normal population variation. Moreover new studies in gene interaction are showing that the search for modifying genes (which modulate gene expression) is of utmost importance. The introduction of new molecular technology constitutes an invaluable tool to enhance our comprehension of the molecular mechanisms of normal and pathological gene functioning and on human diversity. This development has caused an exponential increase in genetic research throughout the world. Nevertheless the gap between first world and developing countries has increased enormously. This center involving highly qualified Brazilian researchers will help bridge this gap integrating several research teams with expertise in the different aspects of genome analysis. Furthermore, genetics is playing an increasingly important role in clinical practice and will certainly be the basis for the future of medicine. Our group has a long tradition in genetic counseling with more than 30.000 families studied. This essential service will be enhanced by the outcomes of this multidisciplinary project. Both in terms of expanding our capacity to attend patients and through the potential greater number of diseases being investigated. Finally, being within a university system our group also has a long tradition in educational activities. These are mainly directed towards undergraduate and graduate students but also attend the needs of a broader public from the population of families who come to genetic counseling to journalists and school teachers. The creation and support to the present center will enhance and develop our capacity to transfer knowledge at all these various levels; E) description of facilities. This center will count with the already existing facilities of several laboratories. These offer an infrastructure that range in application from DNA/RNA and protein analysis to cytogenetic and tissue culture labs. to biological anthropology. As members of the University of Sao Paulo teaching facilities are also widely available. Additionally the centre will count with new facilities currently being developed. These will include an independent building with approximately 1000 m2, with planned space for genetic counseling new laboratories including space for keeping transgenic animals and educational activities as well as a large lecture room. The University of Sao Paulo already covers the costs related to salaries of the main investigators, physical facilities and their maintenance. However, in order for the center to fulfill its aims it will require the further support of the University in terms of salaries for qualified research assistants and technicians. (AU)

Articles published in Pesquisa FAPESP Magazine about the research grant:
The dystrophy center 
The dystrophy center 
El centro de las distrofias 
Doubled treatment 
Doble tratamiento 
El misterio de Ringo y Suflair 
The mystery about Ringo and Suflair 
Articles published in Agência FAPESP Newsletter about the research grant:
Articles published in other media outlets (0 total):
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VEICULO: TITULO (DATA)
VEICULO: TITULO (DATA)

Scientific publications (29)
(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)
NASLAVSKY, MICHEL SATYA; YAMAMOTO, GUILHERME LOPES; DE ALMEIDA, TATIANA FERREIRA; EZQUINA, SUZANA A. M.; SUNAGA, DANIELE YUMI; PHO, NAM; BOZOKLIAN, DANIEL; MILKEWITZ SANDBERG, TATIANA ORLI; BRITO, LUCIANO ABREU; LAZAR, MONIZE; et al. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Human mutation, v. 38, n. 7, p. 751-763, . (98/14254-2, 08/57899-7, 13/08028-1, 11/17428-8)
YAMAMOTO, GUILHERME LOPES; AGUENA, MEIRE; GOS, MONIKA; HUNG, CHRISTINA; PILCH, JACEK; FAHIMINIYA, SOMAYYEH; ABRAMOWICZ, ANNA; CRISTIAN, INGRID; BUSCARILLI, MICHELLE; NASLAVSKY, MICHEL SATYA; et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. JOURNAL OF MEDICAL GENETICS, v. 52, n. 6, p. 413-421, . (98/14254-2, 11/17299-3)
D'ANGELO, CARLA S.; MOLLER DOS SANTOS, MAUREN F.; ALONSO, LUIS G.; KOIFFMANN, CELIA P.. Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity. MOLECULAR SYNDROMOLOGY, v. 6, n. 2, p. 63-70, . (98/14254-2)
DANTAS, VITOR G. L.; FREITAS, ERIKA L.; DELLA-ROSA, VALTER A.; LEZIROVITZ, KARINA; DE MORAES, ANA MARIA S. M.; RAMOS, SILVIA B.; OITICICA, JEANNE; ALVES, LEANDRO U.; PEARSON, PETER L.; ROSENBERG, CARLA; et al. Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. INTERNATIONAL JOURNAL OF AUDIOLOGY, v. 54, n. 9, p. 593-598, . (98/14254-2, 09/00898-1, 09/05620-1)
SALOMONE, RAQUEL; BENTO, RICARDO F.; COSTA, HELOISA J. Z. R.; AZZI-NOGUEIRA, DEBORAH; OVANDO, PATRICIA C.; DA-SILVA, CIRA F.; ZANATTA, DANIELA B.; STRAUSS, BRYAN E.; HADDAD, LUCIANA A.. BONE MARROW STEM CELLS IN FACIAL NERVE REGENERATION FROM ISOLATED STUMPS. MUSCLE & NERVE, v. 48, n. 3, p. 423-429, . (98/14254-2, 08/00458-9)
BUENO JUNIOR, CARLOS R.; PANTALEAO, LUCAS C.; VOLTARELLI, VANESSA A.; BOZI, LUIZ HENRIQUE M.; BRUM, PATRICIA CHAKUR; ZATZ, MAYANA. Combined Effect of AMPK/PPAR Agonists and Exercise Training in mdx Mice Functional Performance. PLoS One, v. 7, n. 9, . (98/14254-2)
D'ANGELO, CARLA S.; GAJECKA, MARZENA; KIM, CHONG A.; GENTLES, ANDREW J.; GLOTZBACH, CARON D.; SHAFFER, LISA G.; KOIFFMANN, CELIA P.. Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Human Genetics, v. 125, n. 5-6, p. 551-563, . (98/14254-2)
ALVES NEVES, WALTER; OKUMURA, MARIA MERCEDES M.; GONZÁLEZ-JOSÉ, ROLANDO; FIGUTI, LEVY; EGGERS, SABINE; BLASIS, PAULO ANTONIO DANTAS DE; HUBBE, MARK OLIVER ROHRIG. A new early Holocene human skeleton from Brazil: implications for the settlement of the New World. Journal of Human Evolution, v. 48, n. 4, p. 403-411, . (98/14254-2, 99/00670-7, 99/12684-2)
CAPELLI, LEONARDO P.; KREPISCHI, C. V.; GURGEL-GIANNETTI, JULIANA; MENDES, MIRIAN FABIOLA S.; RODRIGUES, TATIANE; VARELA, MONICA C.; KOIFFMANN, CELIA P.; ROSENBERG, CARLA. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 55, n. 2, p. 132-134, . (98/14254-2, 09/00898-1)
A.C. BATISSOCO; M.T.B.M. AURICCHIO; L. KIMURA; A. TABITH-JUNIOR; R.C. MINGRONI-NETTO. A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family. Brazilian Journal of Medical and Biological Research, v. 42, n. 2, p. 168-171, . (98/14254-2)
AZEVEDO, NATHALIA F.; SVARTMAN, MARTA; MANCHESTER, ANDREA; DE MORAES-BARROS, NADIA; STANYON, ROSCOE; VIANNA-MORGANTE, ANGELA M.. Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra. BMC Evolutionary Biology, v. 12, . (98/14254-2)
ZABEU ROSSI COSTA, HELOISA JULIANA; BENTO, RICARDO FERREIRA; SALOMONE, RAQUEL; AZZI-NOGUEIRA, DEBORAH; ZANATTA, DANIELA B.; COSTA, MARCIO PAULINO; DA SILVA, CIRO FERREIRA; STRAUSS, BRYAN E.; HADDAD, LUCIANA A.. Mesenchymal bone marrow stem cells within polyglycolic acid tube observed in vivo after six weeks enhance facial nerve regeneration. Brain Research, v. 1510, p. 10-21, . (08/00584-4, 08/00972-4, 98/14254-2)
KERKIS, IRINA; AMBROSIO, CARLOS E.; KERKIS, ALEXANDRE; MARTINS, DANIELE S.; ZUCCONI, EDER; FONSECA, SIMONE A. S.; CABRAL, ROSA M.; MARANDUBA, CARLOS M. C.; GAIAD, THAIS P.; MORINI, ADRIANA C.; et al. Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) dogs: Local or systemic?. JOURNAL OF TRANSLATIONAL MEDICINE, v. 6, . (98/14254-2)
DANTAS, VITOR G. L.; RAVAL, MANMEET H.; BALLESTEROS, ANGELA; CUI, RUNJIA; GUNTHER, LAURA K.; YAMAMOTO, GUILHERME L.; ALVES, LEANDRO UCELA; BUENO, ANDRE SILVA; LEZIROVITZ, KARINA; PIRANA, SULENE; et al. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss. SCIENTIFIC REPORTS, v. 8, . (98/14254-2, 13/08028-1)
KIMURA, LILIAN; NUNES, KELLY; INES MACEDO-SOUZA, LUCIA; ROCHA, JORGE; MEYER, DIOGO; MINGRONI-NETTO, REGINA CELIA. Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes. AMERICAN JOURNAL OF HUMAN BIOLOGY, v. 29, n. 2, SI, . (12/09950-9, 12/18010-0, 13/08028-1, 98/14254-2)
LINHARES, NATALIA D.; VALADARES, EUGENIA R.; DA COSTA, SILVIA S.; ARANTES, RODRIGO R.; DE OLIVEIRA, LUIZ ROBERTO; ROSENBERG, CARLA; VIANNA-MORGANTE, ANGELA M.; SVARTMAN, MARTA. Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization. META GENE, v. 9, p. 185-190, . (98/14254-2, 09/00898-1)
D'ANGELO, CARLA S.; VARELA, MONICA C.; DE CASTRO, CLAUDIA I. E.; KIM, CHONG A.; BERTOLA, DEBORA R.; LOURENCO, CHARLES M.; PEREZ, ANA BEATRIZ A.; KOIFFMANN, CELIA P.. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. MOLECULAR CYTOGENETICS, v. 7, . (98/14254-2)
VICTORINO KREPISCHI, ANA CRISTINA; KNIJNENBURG, JEROEN; BERTOLA, DEBORA ROMEO; KIM, CHONG AE; PEARSON, PETER LEES; BIJLSMA, EMILIA; SZUHAI, KAROLY; KOK, FERNANDO; VIANNA-MORGANTE, ANGELA MARIA; ROSENBERG, CARLA. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia, v. 51, n. 12, p. 2457-2460, . (98/14254-2, 09/00898-1)
FONSECA, A. C. S.; BONALDI, A.; COSTA, S. S.; FREITAS, M. R.; KOK, F.; VIANNA-MORGANTE, A. M.. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl. Clinical Genetics, v. 83, n. 2, p. 169-174, . (98/14254-2, 09/00898-1, 09/03480-8)
BRITO, LUCIANO ABREU; RIBEIRO PARANAIBA, LIVIA MARIS; SILVA BASSI, CAMILA FERNANDES; MASOTTI, CIBELE; MALCHER, CAROLINA; SCHLESINGER, DAVID; ROCHA, KATIA MARIA; CRUZ, LUCAS ALVIZI; BARBARA, LIGIA KOBAYASHI; ALONSO, NIVALDO; et al. Region 8q24 Is a Susceptibility Locus for Nonsyndromic Oral Clefting in Brazil. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, v. 94, n. 6, p. 464-468, . (98/14254-2)
D'ANGELO, CARLA S.; KOHL, ILANA; VARELA, MONICA CASTRO; DE CASTRO, CLAUDIA I. E.; KIM, CHONG A.; BERTOLA, DEBORA R.; LOURENCO, CHARLES M.; KOIFFMANN, CELIA P.. Extending the Phenotype of Monosomy 1p36 Syndrome and Mapping of a Critical Region for Obesity and Hyperphagia. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 152A, n. 1, p. 102-110, . (98/14254-2)
BONALDI, ADRIANO; MAZZEU, JULIANA F.; COSTA, SILVIA S.; HONJO, RACHEL S.; BERTOLA, DEBORA R.; ALBANO, LILIAN M. J.; FURQUIM, ISABEL M.; KIM, CHONG A.; VIANNA-MORGANTE, ANGELA M.. Microduplication of the ICR2 Domain at Chromosome 11p15 and Familial Silver-Russell Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 155A, n. 10, p. 2479-2483, . (98/14254-2, 09/00898-1, 09/03341-8)
D'ANGELO, CARLA SUSTEK; KOHL, ILANA; VARELA, MONICA CASTRO; EMILIO DE CASTRO, CLAUDIA IRENE; KIM, CHONG AE; BERTOLA, DEBORA ROMEO; LOURENCO, CHARLES MARQUES; ALVAREZ PEREZ, ANA BEATRIZ; KOIFFMANN, CELIA PRISZKULNIK. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 161A, n. 3, p. 479-486, . (98/14254-2)
MAZZEU‚ JF; VIANNA-MORGANTE‚ AM; KREPISCHI‚ ACV; OUDAKKER‚ A.; ROSENBERG‚ C.; SZUHAI‚ K.; MCGILL‚ J.; MACCRAUGHAN‚ J.; VAN BOKHOVEN‚ H.; BRUNNER‚ HG. Deletions encompassing 1q41q42. 1 and clinical features of autosomal dominant Robinow syndrome. Clinical Genetics, v. 77, n. 4, p. 404-407, . (98/14254-2)
ROSENBERG‚ C.; KNIJNENBURG‚ J.; CHAUFFAILLE‚ M.L.; BRUNONI‚ D.; CATELANI‚ A.L.; SLOOS‚ W.; SZUHAI‚ K.; TANKE‚ H.J.. Array CGH detection of a cryptic deletion in a complex chromosome rearrangement. Human Genetics, v. 116, n. 5, p. 390-394, . (98/14254-2)
BALESTER DE MELLO AURICCHIO‚ M.T.; VICENTE‚ J.P.; MEYER‚ D.; MINGRONI-NETTO‚ R.C.. Frequency and origins of hemoglobin S mutation in African-derived Brazilian populations. HUMAN BIOLOGY, v. 79, n. 6, p. 667-677, . (98/14254-2)
MARTINS-BACH, AUREA B.; MALHEIROS, JACKELINE; MATOT, BEATRICE; MARTINS, POLIANA C. M.; ALMEIDA, CAMILA F.; CALDEIRA, WALDIR; RIBEIRO, ALBERTO F.; DE SOUSA, PAULO LOUREIRO; AZZABOU, NOURA; TANNSUS, ALBERTO; et al. Quantitative T2 Combined with Texture Analysis of Nuclear Magnetic Resonance Images Identify Different Degrees of Muscle Involvement in Three Mouse Models of Muscle Dystrophy: mdx, Large(myd) and mdx/Large(myd). PLoS One, v. 10, n. 2, . (98/14254-2, 13/08028-1)
YAMAMOTO, GUILHERME L.; BARATELA, WAGNER A. R.; ALMEIDA, TATIANA F.; LAZAR, MONIZE; AFONSO, CLARA L.; OYAMADA, MARIA K.; SUZUKI, LISA; OLIVEIRA, LUIZ A. N.; RAMOS, ESTER S.; KIM, CHONG A.; et al. Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. American Journal of Human Genetics, v. 94, n. 1, p. 113-119, . (98/14254-2)
D'ANGELO, CARLA SUSTEK; VARELA, MONICA CASTRO; EMILIO DE CASTRO, CLAUDIA IRENE; OTTO, PAULO ALBERTO; ALVAREZ PEREZ, ANA BEATRIZ; LOURENCO, CHARLES MARQUES; KIM, CHONG AE; BERTOLA, DEBORA ROMEO; KOK, FERNANDO; GARCIA-ALONSO, LUIS; et al. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. MOLECULAR CYTOGENETICS, v. 11, . (98/14254-2)

Please report errors in scientific publications list by writing to: cdi@fapesp.br.
Filed patent(s) as a result of this research project

PROCESSO DE OBTENÇÃO DE CÉLULAS-TRONCO A PARTIR DE CÉLULAS DO MÚSCULO ORBICULAR DO LÁBIO, COMPOSIÇÕES E USOS PI0705561-7 - Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) ; Universidade de São Paulo (USP) . Maria Rita dos Santos e Passos Bueno; Maria Rita dos Santos e Passos Bueno; Daniela Franco Bueno; Irina Kerkis; Mayana Zatz - November 2007, 23