Europass Curriculum Vitae

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1 Europass Curriculum Vitae Personal information First name(s) / Surname(s) Address(es) dos Santos Rua Manuel Bernardes, n.º 29-A r/c Lisboa Telephone(s) (+351) Fax(es) Nationality Portuguese Date of birth Gender Desired employment / Occupational field Female Genetics of cardiovascular diseases Work experience Dates Occupation or position held Main activities and responsibilities Name and address of employer January 2008 onwards Phd student, project Genetic basis of familial hypercholesterolaemia Clarification of the genetic cause of the hypercholesterolaemia in patients with no identified mutation in the 3 genes described for FH, by the identification of other gene defects that can cause FH. Using techniques such as PCR, DHPLC, MLPA, automated sequencing, pyrosequencing, culture cells and FACS. Unidade de Investigação & Desenvolvimento (Grupo de Investigação Cardiovascular), Departamento de Promoção da Saúde e Doenças Crónicas, Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA) Av. Padre Cruz, Lisboa, Portugal Faculty of Sciences/ University of Lisboa Department of Chemistry and Biochemistry Campo Grande, C8 Building Lisboa / Portugal Type of business or sector Health Sciences Occupation or position held Main activities and responsibilities Dates January 2004 December 2007 Research assistant, project Portuguese FH Study - Clinical and molecular characterization of Portuguese patients with familial hypercholesterolaemia. Clinical and molecular characterization of patients with a clinical diagnosis of Familial Hypercholesterolaemia (FH). Study of genes involved in Familial hypercholesterolaemia phenotype: LDLR and ApoB, using techniques such as PCR, DHPLC, MLPA and automated sequencing. Data analysis by SPSS. Name and address of employer Type of business or sector Unidade de Investigação & Desenvolvimento (Grupo de Investigação Cardiovascular), Departamento de Promoção da Saúde e Doenças Crónicas, Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA) Av. Padre Cruz, Lisboa, Portugal Health Sciences Page 1/7 - Curriculum vitae of

2 Occupation or position held Dates October 2002 December 2003 Trainee (BSc traineeship) Main activities and responsibilities Identification of mutations in LDLR and ApoB of patients with clinical diagnosis of Familial hypercholesterolaemia using techniques such as PCR and automated sequencing. Name and address of employer Type of business or sector Unidade de Investigação Cardiovascular, Centro de Biopatologia, Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA) Av. Padre Cruz, Lisboa, Portugal Health Sciences Education and training Dates September de 1999 a December de 2003 Title of qualification awarded Degree in Biotechnology of Natural Products Principal subjects/occupational skills covered Biotechnology Biochemistry Molecular Biology Name and type of organisation providing education and training Level in national or international classification Personal skills and competences University Independent 16 (mean value) Mother tongue(s) Portuguese Other language(s) Self-assessment Understanding Speaking Writing European level (*) Listening Reading Spoken interaction Spoken production English B2 Independent user C1 Proficient user B2 Independent user B2 Independent user B2 Independent user French A2 Basic user A2 Basic user A2 Basic user A2 Basic user A2 Basic user Spanish B1 Independent user B2 Independent user B1 Independent user B1 Independent user B2 Independent user (*) Common European Framework of Reference for Languages Social skills and competences Team Spirit; Good communication and social interaction skills; Good ability to adapt to multicultural environments; The skills above mentioned were gained through my work experience in a dynamic research group where I established contact with several researchers and medical clinicians, and also with my participation in several national and international congresses where my communication was improved. Organisational skills and competences Leadership; Sense of organization; Good experience in project. These skills were acquired through my participation in several research projects that requires a methodic and organized work. I was also responsible for tutoring trainees in laboratory work, Ciência Viva 2010 and 2011, project title: Portuguese FH Study - Clinical and molecular characterization of Portuguese patients with familial hypercholesterolaemia. Field coordinator in the project e_cor (Prevalência de factores de risco cardiovascular na população portuguesa). Page 2/7 - Curriculum vitae of

3 Technical skills and competences Competent with common techniques in molecular biology such as DNA extraction, PCR, automated sequencing, enzymatic restriction and more advanced techniques as MLPA, pyrosequensing analysis, cell culture and FACS. Computer skills and competences Competent with most Microsoft Office programs and Internet Explorer. Other skills and competences Winner of the Prize Young Investigator in the Congresso Português de Cardiologia Vilamoura 2012 with the work Functional Studies of LDLR Mutations". Ana Catarina Alves, Sónia Silva, Dilip Patel, Anne Katherine Soutar, Mafalda Bourbon. Winner of the 1 st Prize of the Poster Session in the XI Jornadas de Endocrinologia, Diabetes e Metabolismo given by the Hospital Egas Moniz. Winner of the 2009 Pfizer Award for Clinical Research with the work Familial Hypercholesterolaemia: an opportunity for preventive medicine given by Pfizer Laboratories and Society of Medical Sciences of Lisbon. Team member of the research project Prevalence of familial hypercholesterolemia and analysis of cardiovascular risk factors in the Portuguese population funded by Foundation for Science and Technology (FCT) of Portuguese Ministry of Science, Technology and Higher Education. Team member of the research project novel genes causing Familial Hypercholesterolaemia funded by Foundation for Science and Technology (FCT) of Portuguese Ministry of Science, Technology and Higher Education. Team member of the research project Portuguese Study of Familial Hypercholesterolaemia founded by Portuguese Society of Cardiology (SPC). Team member of the research project Young Heart a study of cardiovascular prevention in schools founded by Astrazeneca. Member of the European Atherosclerosis Society (EAS). Member of the Portuguese Society of Cardiology (SPC). Member of the study group of Cellular Biology and Cardiovascular Genetics of the SPC. Member of the Center for Biodiversity, Functional and Integrative Genomics (BIOFIG). Driving licence Category B Page 3/7 - Curriculum vitae of

4 Additional information PUBLICATIONS Alves AC, Etxebarria A, Soutar AK, Martin C, Bourbon M. Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia. (submitted) Medeiros AM, Alves AC, Bourbon M, on behalf of the investigators of the Portuguese FH Study. Cardiovascular risk assessment of pediatric dyslipidemic patients. (submitted) Rocha T, Rocha E, Alves AC, Medeiros AM Francisco V, Silva S, Guiomar S, Gaspar IM, Rato Q, Bourbon M. Cardiovascular risk profile of high school students: a cross-sectional study (submitted) MC Espinheira, C Vasconcelos, AM Medeiros, AC Alves, M Bourbon, A Guerra. Hipercolesterolemia uma patologia com expressão desde a idade pediátrica. Rev Port Cardiol May;32(5): Silva S, Alves AC, Patel D, Malhó R, Soutar AK, Bourbon M. In vitro functional characterization of missense mutations in the LDLR gene. Atherosclerosis Nov;225(1): Medeiros AM, Alves AC, Francisco V, Bourbon M, on behalf of the investigators of the Portuguese FH Study. Update of the Portuguese Familial Hypercholesterolaemia Study. Atherosclerosis 2010; 212: Alves AC, Medeiros AM, Francisco V, Gaspar, IM, Rato Q, Bourbon M. Molecular diagnosis of Familial Hypercholesterolaemia: an important tool for cardiovascular risk stratification. Rev Port Cardiol 2010; 29 (06): Alves AC, and Bourbon M. Resequencing of LDLR and APOB genes in patients with clinical diagnosis of Familial Hypercholesterolaemia. European Journal of Human Genetics (suppl), 2010 Vol.18:2 (Abstract). Bourbon M, Duarte MA, Alves AC, Medeiros AM, Marques L, Soutar AK. Genetic diagnosis of Familial Hypercholesterolaemia: the importance of functional analysis of potential splice site mutations. Journal of Medical Genetics 2009;46: Alves AC, Francisco V, Medeiros AM, Marques L, Bourbon M. "Characterization of potential splice site mutations in the LDL receptor gene in patients with clinical diagnosis of Familial Hypercholesterolaemia". European Journal of Human Genetics (suppl), 2009 Vol.17:2 (Abstract). Bourbon M, Rocha T, Francisco V, Alves AC, Medeiros AM, Santos T, Paixão E. Young Heart a study of cardiovascular prevention in schools. European Journal of Cardiovascular Prevention & Rehabilitation (suppl), 2009 Vol.16(1):40 (Abstract). Bourbon M, Alves AC, Medeiros AM, Silva S, Soutar AK; on behalf of the investigators of the Portuguese FH study. Familial hypercholesterolaemia in Portugal. Atherosclerosis, 2008 Feb; 196(2): Page 4/7 - Curriculum vitae of

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6 ORAL COMMUNICATION BY INVITATION: Instituto Piaget, 6th December "Genetic Disorders of Lipoprotein Metabolism" seminar to the students of Nutrition from Instituto Piaget. Instituto Piaget, 10th December "Genetic Disorders of Lipoprotein Metabolism" seminar to the students of Nutrition from Instituto Piaget. Instituto Piaget, 19th December Genetic Disorders of Lipoprotein Metabolism" seminar to the students of Nutrition from Instituto Piaget "the bad cholesterol also is inherited?" open week of the national institute of health Dr. Ricardo Jorge (2004) ORAL COMMUNICATION: Prémio Jovem Investigador - Investigação Básica: "Functional Studies of LDLR Mutations" Ana Catarina Alves, Sónia Silva, Dilip Patel, Anne Katherine Soutar, Mafalda Bourbon. Congresso Português de Cardiologia Vilamoura 2012 XXX Congresso Português de Cardiologia, Vilamoura, Portugal, Abril. "Hipercolesterolemia Familiar: uma oportunidade para a medicina preventiva". Alves AC, Medeiros AM, V. Francisco, M. Bourbon em nome dos investigadores do Estudo Português de FH. XXVIII Congresso Português de Cardiologia, Vilamoura, Portugal, Abril. "Estudo Português de Hipercolesterolemia Familiar: Actualização dos Resultados". Medeiros AM, Alves AC, Silva S, Bourbon M, pelos Investigadores do Estudo Português de Hipercolesterolemia Familiar. Ana Catarina Alves. Mutation identification in the LDLR gene in patients with clinic diagnosis of Familial Hypercholesterolaemia". II symposium of natural Products (2004) Ana Catarina Alves, Quitéria Rato, José Manuel Silva, António Guerra, Pedro Marques Silva, Graça Morais, Mafalda Bourbon. Molecular Study of Portuguese Patients with Familial Hypercholesterolaemia Human Genetic Portuguese Society 8º Meeting, OPorto, Portugal (2004). Ana Catarina Alves, Quitéria Rato, Graça Morais, Mafalda Bourbon. Mutation identification in the ApoB gene in patients with clinic diagnosis of Familial Hypercholesterolaemia. XIII Portuguese Congress of Ateriosclerosis, Albufeira, Portugal (2005) Alves, AC and Bourbon, M "Study of PCSK9 gene in the patients with Familial Hypercholesterolemia". Young Investigator Day, INSA, Lisbon (2006) POSTERS IN CONFERENCES: More than 50 in international and national congress. Page 6/7 - Curriculum vitae of

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