Paulo Pinho e Costa, MD, PhD

Integrated PhD Researcher

orcid.org/0000-0001-6125-7000

Academic degrees:

PhD in Biomedical Sciences, branch of Pathology, ICBAS, University of Porto

Graduation in Medicine, ICBAS, University of Porto

Current Positions:

• 2012 to Present - Member of the Executive Committee of the Portuguese Newborn Screening Program.
• 1997 to Present - Assistant Professor, Pathology and Molecular Immunology Dept. Inst. Ciências Biomédicas Abel Salazar, U. Porto.
• 1997 to Present - Researcher, Human Genetics Dept. Inst. Nacional de Saúde Dr. Ricardo Jorge.

Research interests:

• Molecular pathology, immunology and genetics of autoimmune and neurological diseases
• Amyloid and amyloidosis
• Multiple Sclerosis
• Epilepsy
• Rare metabolic diseases

Research area keywords:

Autoimmunity, Amyloid, Epilepsy, Genetics of complex diseases, Molecular pathology, Rare diseases

Major Scientific Achievements:

• Uncovering the protective role of HLA-A*02 [Silva et al. Mult Scler. 2009] and HLA-DRB1*13 [Bettencourt et al. J Immunol Res. 2015] in multiple sclerosis.
• Delineation of the role of the distal nephron in erythropoietin production [Beirão et al. Clin Nephrol. 2010]
• First successful birth following preimplantation genetic diagnosis for ATTR amyloidosis [Almeida et al. Reprod BioMed Online. 2005]
• Development of first monoclonal antibody specific for the amyloid conformation of an amyloidogenic protein [Costa et al. Scand J Immunol. 1993]

Ongoing projects:

BIEM. Genetic and Epigenetic Biomarkers of Disease Progression in Multiple Sclerosis Portuguese Patients. PI: Andreia Bettencourt

Tecnifar. Fatores epigenéticos: Possíveis Biomarcadores de Epileptogénese? BICE 2015. PI: João Chaves.

Concluded projects:

Tecnifar-Industria Técnica Farmacêutica, SA, BICE2013. Factores Genéticos de Susceptibilidade à Epilepsia Idiopática Generalizada . PI: João Chaves.

Tecnifar-Industria Técnica Farmacêutica, SA, BICE 2012. Variabilidade genética do sistema serotonérgico na epilepsia. PI: João Chaves.

FCT, PIC/IC/83297/2007. The relevance of HHV-6B in patients with Mesial Temporal Lobe Epilepsy (MTLE) due to Hippocampal Sclerosis (HS): implications in prevention and treatment. PI: Berta Silva.

Biogen Idec Portugal (2006) “Iron metabolism and Multiple Sclerosis: implications on the development and course of the disease.”

Tecnifar-Industria Técnica Farmacêutica, SA, BICE2005. Esclerose Mesial do Hipocampo e Polimorfismos do Gene ApoE. PI: João Chaves.

Serono (2005) “Identificação dos alelos HLA classe I em doentes com Esclerose Múltipla e correlação com características clínicas.”

PhD thesis supervision (concluded):

• Idalina Maria Almeida Brandão de Melo Beirão. Doutoramento em Ciências Médicas, ICBAS-UP. “Envolvimento renal na génese da anemia na polineuropatia amiloidótica familiar tipo português.” 2009.
• Luciana Maria Vaz Moreira. Doutoramento em Ciências Biomédicas, ICBAS-UP. “Dissecting the role of amyloid fibril deposition in the kidney in familial amyloidotic polyneuropathy.” 2015.
• Andreia Manuela Teixeira Bettencourt Moreira. Doutoramento em Ciências Biomédicas, ICBAS-UP. Genetic susceptibility and immune dysfunction in multiple sclerosis. 2017.
• Bárbara Alexandra Padrão Guerra Leal. Doutoramento em Ciências Biomédicas, ICBAS-UP. Inflammation and Neurotransmission in Mesial Temporal Lobe Epilepsy. 2017.
• Fabiana Marisa Vieira das Neves. Doutoramento em Patologia e Genética Molecular, ICBAS-UP. “Genetic characterization of the innate immune system of lagomorphs (ILs, CCLs).” 2017.

• Pedro Castro Lacerda. “The metabolic and psychosocial impact of a gluten-poor diet.” 2020.

MSc thesis supervision (concluded):

• Sandra Flora da Silva Brás Maia. "Predisposição Genética para a Patologia do Sono - Implicações na sinistralidade e acidentes de trabalho". Mestrado em Medicina Legal. 2009.
• Luciana Maria Vaz Moreira. “Eritropoietina - Produção renal, anemia e cancro.” Mestrado em Medicina e Oncologia Molecular, FMUP. 2011.