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R&D Projects

Proposals for Research Projects in all Scientific Domains - 2006

Painel de Avaliação de Genética Médica e Genómica Funcional - 2006

Coordination

Jeffery M Vance
University of Miami, United States

Evaluation

Carlos Moraes
Lois Pope Life Center - Miami, United States
Jeffery M. Vance
John Gilbert
University of Miami, United States
Jonathan Haines
Vanderbilt University Medical Center, United States

Projects assigned

PTDC/SAU-GMG/64176/2006

Estrogen signaling and epigenetic modifications in the regulation of the CYP46A1 expression in the brain
Elsa Margarida Teixeira Rodrigues
Faculdade de Farmácia da Universidade de Lisboa (FF/ULisboa)

PTDC/SAU-GMG/64426/2006

Genetic epidemiology of stroke in the post-genomic era
Ana Sofia Simões Domingues de Almeida Oliveira
Fundação Calouste Gulbenkian (FCG)

PTDC/SAU-GMG/64427/2006

Identification of genetic risk factors for Behçet's disease using the genomic convergence approach
Ana Sofia Simões Domingues de Almeida Oliveira
Fundação Calouste Gulbenkian (FCG)

PTDC/SAU-GMG/64428/2006

microRnomics and proteomics of Parkinson's disease
Ana Sofia Simões Domingues de Almeida Oliveira
Fundação Calouste Gulbenkian (FCG)

PTDC/SAU-GMG/64445/2006

A functional genomics approach to study traffic of membrane proteins relevant to Cystic Fibrosis
Margarida Sofia Pereira Duarte Amaral
Fundação da Faculdade de Ciências da Universidade de Lisboa, FP (FFC/FC/ULisboa)

PTDC/SAU-GMG/64452/2006

Genomic disorders - chromosome translocation-based positional cloning of genes for congenital anomalies and its molecular pathogenetic mechanisms
Dezso David
Pró-INSA, Associação para a Promoção da Investigação em Saúde (Pró-INSA/INSARJ)

PTDC/SAU-GMG/64471/2006

Understanding and Treating Cystic Fibrosis Through Mutation-Specific Approaches
Margarida Sofia Pereira Duarte Amaral
Fundação da Faculdade de Ciências da Universidade de Lisboa, FP (FFC/FC/ULisboa)

PTDC/SAU-GMG/64494/2006

Study of post-transcriptional regulation of HFE gene expression - a contribution to understand its role in iron homeostasis and in Hereditary Hemochromatosis development
MARIA PAULA DUARTE FAUSTINO GONÇALVES
Pró-INSA, Associação para a Promoção da Investigação em Saúde (Pró-INSA/INSARJ)

PTDC/SAU-GMG/64519/2006

Molecular Genetics and Functional Genomics of Autism Spectrum Disorders
Astrid Vicente
Instituto Nacional de Saúde Dr. Ricardo Jorge (INSARJ)

PTDC/SAU-GMG/64896/2006

FUNCTIONAL RELATION BETWEEN LIPID HOMEOSTASIS AND OXIDATIVE STRESS IN MILD COGNITIVE IMPAIRMENT AND ALZHEIMER'S DISEASE
Madalena Cristina da Rocha Martins
Instituto Nacional de Saúde Dr. Ricardo Jorge (INSARJ)

PTDC/SAU-GMG/65166/2006

Pyruvate kinase deficiency and protection against malaria
Ana Paula Martins dos Reis Arez
Instituto de Higiene e Medicina Tropical (IHMT/UNL)

PTDC/SAU-GMG/65434/2006

The study of inbreeding, recessive genes and genomic homozygosity in the Azorean population
Luisa Maria Quental Mota Vieira
Hospital do Divino Espírito Santo (HDES)

PTDC/SAU-GMG/65508/2006

Psychosocial Genetics, Ethical and Legal Aspects, and Laboratory Quality in Genetic Testing for Late-Onset Neurological Diseases
Jorge Sequeiros
Instituto de Biologia Molecular e Celular (IBMC/UP)

PTDC/SAU-GMG/66120/2006

Pathogenesis of Helicobacter pylori by a proteomics approach.
Mónica Alexandra Roxo Cruz Rosa Iglésias
Faculdade de Engenharia da Universidade Católica Portuguesa (FE/UCP)

PTDC/SAU-GMG/66141/2006

Dual genome control in human OXPHOS diseases: a molecular and functional approach
Catarina Oliveira
Centro de Neurociências e Biologia Celular (CNBC/UC)

PTDC/SAU-GMG/66159/2006

Proteomic analysis of Plasmodium infected hepatocytes
Maria Manuel Dias da Mota
Instituto de Medicina Molecular João lobo Antunes (IMM/FM/ULisboa)

PTDC/SAU-GMG/66192/2006

The silent kiss of death: finding gene variants related with suicidal behaviour
Alda Maria Abreu Cardoso
Instituto Nacional de Medicina Legal e Ciências Forense, I.P. (INMLCF/MJ)

PTDC/SAU-GMG/66204/2006

Evolutionary dynamics, renal disease and genetic modifiers in Familial Amyloid Polyneuropathy (FAP ATTRV30M)
Alda Maria Botelho Correia de Sousa
Instituto de Biologia Molecular e Celular (IBMC/UP)

PTDC/SAU-GMG/66455/2006

Huntington and ´Huntington-like´ disorders in Portugal: molecular, epidemiological and neuropsychological aspects
Cláudia Sofia Ferreira e Sousa Lima dos Santos
Instituto de Biologia Molecular e Celular (IBMC/UP)

PTDC/SAU-GMG/66748/2006

Genetic polymorphisms for the Alcoholic Hepatic Cirrhosis patients in the Madeira archipelago
Antonio Brehm
Universidade da Madeira (UMA)

PTDC/SAU-GMG/66835/2006

Molecular mechanisms of somatic and germinal instability at CAG/CTG repeat loci responsible for neurodegenerative disorders
António Manuel Amorim dos Santos
Instituto de Patologia e Imunologia Molecular (IPATIMUP/UP)

PTDC/SAU-GMG/66975/2006

Lipid trafficking abnormalities in Neuronal Ceroid Lipofuscinoses: potential disease therapeutic targets?
CARLA ANDREIA FIDALGO TEIXEIRA
Instituto de Genética Médica Jacinto Magalhães (IGM)

PTDC/SAU-GMG/67031/2006

The polyglycine expansion in the N-terminal domain of eRF3a in cancer development
Miguel Brito
Instituto Politécnico de Lisboa (IPL)

PTDC/SAU-GMG/67551/2006

Genetic and lifestyle implications on childhood obesity
José António Silva-Nunes
Escola Superior de Tecnologia da Saúde de Lisboa (ESTeSL/IPL)

PTDC/SAU-GMG/67570/2006

Lysosomal glucocerebrosidase gene mutations: implications for Gaucher disease
OLGA ALCINA MARTINS DE OLIVEIRA AMARAL
Instituto de Genética Médica Jacinto Magalhães (IGM)

PTDC/SAU-GMG/67608/2006

Chronic Obstructive Pulmonary Disease (COPD):a Functional Proteomic Study
Deborah Penque
Pró-INSA, Associação para a Promoção da Investigação em Saúde (Pró-INSA/INSARJ)

PTDC/SAU-GMG/67792/2006

Finding modifier genes of Machado-Joseph disease: from clinical variability to genetic heterogeneity
Maria Manuela de Medeiros Lima
Universidade dos Açores (UAçores)

PTDC/SAU-GMG/68026/2006

Genome-wide analysis of single nucleotide polymorphisms in myelodysplastic syndromes (MDS)
Manuela Paula Guerra Pinheiro Gameiro da Costa
Instituto de Medicina Molecular João lobo Antunes (IMM/FM/ULisboa)

PTDC/SAU-GMG/68414/2006

COX Pharmacogenomic Profile in Digestive Tract Carcinogenesis
Mario Dinis Ribeiro
Instituto Português de Oncologia de Francisco Gentil, Centro Regional de Oncologia do Porto (IPO Porto)

PTDC/SAU-GMG/68591/2006

Molecular mechanisms underlying AMD: functional and molecular characterisation of phagocytosis and secretion of mediators by RPE
Jose Silva Ramalho
Faculdade de Medicina da Universidade de Coimbra (FM/UC)

PTDC/SAU-GMG/68714/2006

Unravelling the in vitro epigenetic effects of intracellular S-adenosylhomocysteine accumulation on nitric oxide bioavailability
Maria Rita M A Azevedo e Castro
Faculdade de Farmácia da Universidade de Lisboa (FF/ULisboa)

PTDC/SAU-GMG/69336/2006

Hypertrophic and dilated cardiomiopathyes: research on stratification risk markers associated with gene expression and mutational spectrum
Susana Isabel Rodrigues dos Santos
Faculdade de Farmácia da Universidade de Lisboa (FF/ULisboa)

PTDC/SAU-GMG/69356/2006

Study of primary and secondary pathophysiological mechanisms of lysosomal diseases mucolipidosis II and III
Sandra Catarina da Conceição Alves
Instituto de Genética Médica Jacinto Magalhães (IGM)

PTDC/SAU-GMG/69395/2006

Genetic Study of Heredtary Spastic Paraplegia
José Eduardo Portugal Leal de Loureiro
Instituto de Biologia Molecular e Celular (IBMC/UP)

PTDC/SAU-GMG/69739/2006

Mechanisms of splicing regulation by U2AF proteins
Maria Carmo-Fonseca
Instituto de Medicina Molecular João lobo Antunes (IMM/FM/ULisboa)

PTDC/SAU-GMG/69785/2006

Genetic basis of familial hypercholesterolaemia
Mafalda Bourbon
Instituto Nacional de Saúde Dr. Ricardo Jorge (INSARJ)

PTDC/SAU-GMG/70033/2006

Functional analysis and origins of the pathophysiology of mutations within genes of the fatty acid oxidation pathway: implications in the multiple acyl-CoA dehydrogenase deficiency disorder
Cláudio Emanuel Moreira Gomes
ITQB NOVA - Instituto de Tecnologia Química e Biológica António Xavier (ITQB NOVA/UNL)

PTDC/SAU-GMG/70550/2006

Molecular analysis of different types of Maple Syrup Urine Disease: characterization of the mutational spectrum in Portugal and relationship with clinical phenotypes
Maria João Prata
Instituto de Patologia e Imunologia Molecular (IPATIMUP/UP)

PTDC/SAU-GMG/70635/2006

Genetic factors underlying interindividual variability in platelet responsiveness: implications in differential blood platelet sensitivity to antithrombotic therapy
Maria Begoña Criado Alonso
Cooperativa de Ensino Superior Politécnico e Universitário, CRL (CESPU)

PTDC/SAU-GMG/70981/2006

Genetic mechanisms leading to spontaneous abortion. Analysis by Comparative Genomic Hibridization (CGH) and expression of imprinted genes.
Alexandra Matias Pereira da Cunha Coelho de Macedo
Faculdade de Medicina da Universidade do Porto (FM/UP)

PTDC/SAU-GMG/71018/2006

HLA loci and Recurrent Spontaneous Abortion association in the Portuguese population
Hélder Spínola
Universidade da Madeira (UMA)

PTDC/SAU-GMG/71019/2006

Diabetes Mellitus type 1 HLA class II loci association in Madeira and Azores.
Hélder Spínola
Universidade da Madeira (UMA)

PTDC/SAU-GMG/71064/2006

Characterization of genetic loci and molecular changes associated with familial non-medullary thyroid tumours
Teresa Maria Caldeira Martins
Instituto Português de Oncologia de Francisco Gentil, Centro Regional de Oncologia de Coimbra (IPO Coimbra)

PTDC/SAU-GMG/71218/2006

Integrated Genomic and Epigenomic Analysis of Glioblastomas: Implication in Patients´ Therapeutic Outcome
RUI MANUEL VIEIRA REIS
Universidade do Minho (UM)

PTDC/SAU-GMG/71469/2006

Molecular aspects of Cervical Cancer in Portugal - Genetic variants as risk factors.
Jacome Bruges Armas
Hospital Santo Espírito de Angra do Heroísmo (HSEAH)

PTDC/SAU-GMG/71487/2006

Searching for susceptibility genes in Breast Cancer : a study in the Azores Islands
Jacome Bruges Armas
Hospital Santo Espírito de Angra do Heroísmo (HSEAH)

PTDC/SAU-GMG/71572/2006

Linkage analysis and molecular pathology in autosomal dominant polycystic kidney disease (ADPKD)
JOÃO PAULO FERREIRA DA SILVA OLIVEIRA
Faculdade de Medicina da Universidade do Porto (FM/UP)

PTDC/SAU-GMG/71599/2006

Genome-wide screening with libraries of synthetic zinc-finger proteins capable to modulate host gene expression: Application in HIV-1 infection.
Joao Goncalves
Associação para o Desenvolvimento do Ensino e Investigação da Microbiologia (ADEIM)

PTDC/SAU-GMG/71720/2006

Mechanisms of Resistance to Imatinib in Chronic Myeloid Leukemia
Maria Purificação Valenzuela Sampaio Tavares
Centro de Genética Clínica e Patologia Prof. Amândio S. Tavares, Lda. (CGC)

PTDC/SAU-GMG/71773/2006

Anaysis of the human membrane trafficking machinery - application to lysosomes and disease
José Bartholo Pereira Leal
Fundação Calouste Gulbenkian (FCG)

PTDC/SAU-GMG/71911/2006

The study of Antley-Bixler Syndrome related mutations of cytochrome P450 oxidoreductase: CYPOR polymorphism and the human cytochrome P450 enzyme complex
Michel Kranendonk
Faculdade de Ciências Médicas (FCM/UNL)

PTDC/SAU-GMG/71931/2006

Disease Mechanisms in Chronic Hepatitis C
Maria Fátima Soares Silveira Serejo Leal da Silva
Instituto de Medicina Molecular João lobo Antunes (IMM/FM/ULisboa)

PTDC/SAU-GMG/72080/2006

The Molecular Genetics of Ankylosing Spondylitis - a Portuguese Consortium for the understanding of AS pathogenesis
Jacome Bruges Armas
Hospital Santo Espírito de Angra do Heroísmo (HSEAH)

PTDC/SAU-GMG/72736/2006

Unmasking criminal behaviour: the importance of genes
Alda Maria Abreu Cardoso
Instituto Nacional de Medicina Legal e Ciências Forense, I.P. (INMLCF/MJ)

PTDC/SAU-GMG/73054/2006

Nuclear receptor signalling pathways in cardiovascular disease
Vera Ribeiro Marques
Universidade do Algarve (UAlg)

PTDC/SAU-GMG/73173/2006

Rheumatoid Arthritis HLA class II association in Madeira and Azores.
Hélder Spínola
Universidade da Madeira (UMA)

PTDC/SAU-GMG/73201/2006

Molecular cell biology of human testicular adult stem cells
Mário Manuel da Silva Leite Sousa
Instituto de Ciências Biomédicas Abel Salazar da universidade do Porto (ICBAS/UP)

PTDC/SAU-GMG/73318/2006

Regulation of tissue factor pre-mRNA splicing and alternative isoform expression in vascular and inflammatory cells
Teresa Raquel Duarte Pacheco
Instituto de Medicina Molecular João lobo Antunes (IMM/FM/ULisboa)

PTDC/SAU-GMG/73532/2006

Ankylosing Spondylitis: genomic and functional characterization of candidate genes and its repercussion in clinical practice.
Jaime Branco
Faculdade de Ciências Médicas (FCM/UNL)

PTDC/SAU-GMG/76112/2006

Recombination signal sequences: A bioinformatics approach to the identification of factors acting in trans and cis.
CARLOS AUGUSTO GOMES BARBOSA DA PENHA GONÇALVES
Fundação Calouste Gulbenkian (FCG)

PTDC/SAU-GMG/76284/2006

Gene expression analysis of breast tumors using intronic oligoarrays
Bernardo Rodrigues Peixoto
Universidade dos Açores (UAçores)

PTDC/SAU-GMG/64043/2006

Looking for evidences of human adaptation in the proteolysis universe: the case-study of serine protease inhibitors
Susana Seixas
Instituto de Patologia e Imunologia Molecular (IPATIMUP/UP)

PTDC/SAU-GMG/64076/2006

Therapeutic approaches for Machado-Joseph disease: study in a mouse model
Patrícia Espinheira de Sá Maciel
Universidade do Minho (UM)

PTDC/SAU-GMG/67868/2006

THE GENETICS OF CD8+ T LYMPHOCYTE HOMEOSTASIS: implications in the clinical expression of Hereditary Hemochromatosis
Maria da Graça Beça Gonçalves Porto
Instituto de Biologia Molecular e Celular (IBMC/UP)

PTDC/SAU-GMG/72168/2006

Papel de novos mechanismos regulatórios na perda de expressão da caderina-E
Carla Oliveira
Instituto de Patologia e Imunologia Molecular (IPATIMUP/UP)

PTDC/SAU-GMG/74375/2006

Determine if the loss of heterozygosity for JAK2 V617F mutation along with the circulating levels of CD34+ and activated granulocytes and platelets are associated with disease progression in Myeloproliferative disorders patients.
Maria Letícia de Sousa Ribeiro
Centro Hospitalar de Coimbra E.P.E. (CHC)