Lúcia Lacerda, PhD

Integrated PhD researcher

http://orcid.org/0000-0002-7970-9535

Academic degrees:

1999-PhD in Biomedical Sciences, University of Porto

1988-Biochemistry degree, University of Porto

Positions:

Since 2013 Head of Biochemical Genetic Unit, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto

2009-2012 Head of Biochemical Genetic Unit, Department of Genetics, Centro de Genética Médica Doutor Jacinto Magalhães, Instituto Nacional de Saúde Doutor Ricardo Jorge

2004-2008 Head of Enzymology Unit, Instituto de Genética Médica Doutor Jacinto Magalhães

1997-2004 Genetics assistant, Enzymology Unit, Instituto de Genética Médica Doutor Jacinto Magalhães

1991-1997 Ph.D. student, Unidade de Biologia do Lisossoma e Peroxissoma UniLiPe, Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto

1989-1990 Research assistant, Enzymology Unit, Instituto de Genética Médica Doutor Jacinto Magalhães

Research interests:

• Biochemical and molecular diagnosis of Inherited Metabolic Disorders.

Research area keywords:

Health Sciences, Human Genetics, Inherited Metabolic Disorders, Lysosomal Disorders, Peroxisomal Disorders

Selected publications:

1. Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J,Castiñeiras D, Cocho JA. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59.
2. Coutinho MF, Lacerda L, Alves S. Glycosaminoglycan storage disorders: a review. Biochem Res Int. 2012;2012:471325. doi: 10.1155/2012/471325. Epub 2011 Oct 5.
3. Barbosa M1, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L,Bisceglia L, Cardoso ML. Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. Clin Genet. 2012 Jan;81(1):47-55. doi: 10.1111/j.1399-0004.2011.01638.x.
4. Encarnação M1, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x.
5. Pompe Disease Diagnostic Working Group1, Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K,Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T,Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008 Mar;93(3):275-81. Epub 2007 Dec 19.

Ongoing projects:

POMPEI Deteção da doença de Pompe em doentes com diagnóstico ou suspeita de miopatia de etiologia desconhecida e/ou hiperCKemia assintomática Promotor: Sociedade Portuguesa de Medicina Interna, Núcleo De Estudos Doenças Raras - NEDR e Núcleo de Doenças Auto Imunes - NEDAI PI: Brito Avô, Hosp .St Maria, CHLN Lisboa (NEDR), José Alves, Hosp.Prof. Fernando da Fonseca, Amadora (NEDAI)

DETECKT Deteção da doença de Pompe em doentes com suspeita de miopatia ou hiperCKemia assintomática Promotor: Sociedade Portuguesa de Estudos de Doenças Neuromusculares (SPEDNM) PI: João Martins, Hosp. Pedro Hispano, ULS Matosinhos

CAPPELLINI Deteção da doença de Gaucher em doentes com esplenomegalia e/ou trombocitopenia. Promotor: Sanofi-Genzyme com a Sociedade Portuguesa de Hematologia PI: Fátima Ferreira, H.S.João, Porto

RAFAGES Rastreio da doença de Fabry em doentes com glomeroesclerose focal e segmentar.Promotor: Sociedade Portuguesa de Nefrologia PI: Dr. Jesus Garrido, Hospital S. Teotónio, Viseu

RICERCARE Deteção da doença de Fabry em doentes não dialisados com doença renal crónica estadios 1 a 5. Promotor: Sociedade Portuguesa de Nefrologia PI: Idalina Beirão, CHP, Teixeira e Costa, Hosp .de Garcia d´Orta, Almada

Concluded projects:

Applied investigation promoted by Scientific societies and Pharmaceuticals:

PORTYSTROKE Portuguese young stroke patients - Estudo nacional de doentes com AVC em idade jovem

PORTYWHITE Portuguese registry on incidental white matter lesions of presumed vascular etiology in young adults

ENDOMUS Estudo Nacional para o Diagnóstico de Doentes com Doença Muscular de Etiologia Indeterminada (ENDOMUS), Sociedade Portuguesa de Estudos de Doenças Neuromusculares (SPEDNM)

DIPPEr DIaphragm Paralysis Pompe invEstigation (DIPPEr), Sociedade Portuguesa de Pneumologia (SPP)

DeteCKT DETEcção da doença de Pompe em doentes com fenótipo de distrofia muscular das cinturas ou HiperCKEmia assinTomática, Sociedade Portuguesa de Estudos de Doenças Neuromusculares (SPEDNM)

2002 to 2004 - Study of CD1d+ and V?24+ T cells in Gaucher patients: relationship with the patient`s lipid profile. Funding entity: Genzyme. Total award period covered: From May 2002 to April 2004. Principal investigator: Clara Sá Miranda

FCT funding:

PTDC/SAU-GMG/102889/20089 – 2010-2013 - Transporte de proteínas lisossomais por vias independentes à manose 6-fosfato: estudos moleculares, bioquímicos e funcionais. Principal investigator: Sandra Alves. Funding: FCT

PIC/IC/83252/2007 - 2009 to 2011 - Molecular analysis of the Mucolipidosis II and III in Portugal: characterization of the mutational spectrum and relationship with clinical phenotypes. Principal investigator: Sandra Alves. Funding: FCT

2007 to 2008 - Neuronal Ceroid Lipofuscinosis: Molecular, biochemical and functional studies. Funding: FCT

2005 to 2008 - Neuronal Ceroid Lipofuscinosis: Molecular, biochemical and functional studies. Funding: FCT

2002 to 2005 - An injectable enzyme delivery system based on apatite nanoparticles and natural hydrogel microspheres for bone regeneration. Principal investigator: Mário Barbosa. Funding: FCT

FCT-MCT PRAXIS/P/SAU/12288/1998 – 1999 to 2001 - Bioactive biomaterials as supports for immobilization and subsequent in vivo release of imiglucerase: a new therapeutic approach for treatment of Gaucher disease. Principal investigator: Mário Barbosa. Funding FCT

PRAXIS nº2/2.1/SAU/1323/95 – 1996 to 1998 - T-lymphocyte regulation of epithelial and phagocytic cell storage: genetic hemochromatosis (EH) and Gaucher disease (GD) as models. Principal investigator: Maria de Sousa. Funding entity: JNICT program

STRIDE 0055/D/F/91 – 1993 to 1996 - Glicoesfingolipidos e lisoesfingolipidos na etiologia das esfingolipidoses- Doença de Gaucher como modelo. Principal investigator: Clara Sá Miranda Funding entity: JNICT

1993 to 1995 - Gaucher disease: Frequency of the N370S glucerebrosidase mutation in Portuguese population. Principal investigator: Clara Sá Miranda. Funding entity: JNICT.

STRDA/C/SAU/343/92 – 1992 to 1993 - Doença de Gaucher: frequência da mutação N370S do gene da glucocerebrosidase e sua expressão fenotípica. Principal investigator: Clara Sá Miranda. Funding entity: JNICT

JNICT nº87 388-IMU – 1989 to 1991 - Despiste de esfingolipidoses em Portugal-Estudo da glucocerebrosidase. Principal investigator: Clara Sá Miranda. Funding entity: JNICT

Prizes, honors, awards:

2000- Prize Jacinto de Magalhães

1994- Prize Jacinto de Magalhães

International collaborations:

• Prof. Ronald Wanders, Laboratory Genetic Metabolic Diseases, Academic Medical Center (MC), University of Amsterdam Research line aim/outcome: Peroxisomal disorders
• D. Lefeber Department of Neurology; Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen
• Prof. AH Futerman, Department of Biological Chemistry, Weismann Institute of Science Research line aim/outcome: Sphingolipidosis
• J. Jaeken , G. Mathijs e E. Morava – Metabolic Centrum – UZ Leuven University Hospitals . Research line aim/outcome: Congenital Disorders of Glycosylation
• Prof. Alexey Pshezhetsky, Division of Medical Genetics, Sainte-Justine University Hospital, Research Center, Montreal. Research line aim/outcome: MPS IIIC disease
• Ana Marmiesse, Unidad de Diagnóstico y Tratamiento de Errores Congénitos del Metabolismo. Servicio de Pediatría, Hospital Clinico Universitario de Santiago de Compostela. Research line aim/outcome: NGS analysis

Science and Society:

• Organizing Comitee of SPDM-Sociedade Portuguesa de Doenças Metabólicas (2015, 2018)
• Scientific comitee of XLVII Conferências de Genética (2014-2018)