Genes, Populations and Disease


Main Researcher: Licínio Manco

The main research focus of Genes, Populations and Diseases group is the assessment of genetic variation across populations, including both normal and disease phenotypes.

The group activity covers important topics in human genetics, including:

    1. genetic basis of complex diseases, including obesity;
    1. molecular basis of haematological conditions, namely red cell enzyme deficiencies, HbF production in adults and venous thrombosis susceptibility.
    1. effect of diseases (such as malaria) on modern patterns of genetic variation;
  1. population genetics studies using Y-chromosome and autosomal variants.


Licínio Manco
Researcher; Group Coordinator
Licínio MancoResearcher; Group Coordinator


Research group: Genes, Populations and Disease (Group Coordinator)LManco

Institutional Address:

Research Centre for Anthropology and Health (CIAS)

Department of Life Sciences


Phone number: +351 239 240 700


Research interests:

His work is mainly in genetic basis of human variation, in both normal and disease phenotypes.

He is actively interested in:

– genetic basis of complex diseases, including obesity and haematological conditions;

– molecular basis of human genetic diseases, with a particular focus on red cell enzyme


– population genetic studies using common genetic variation in autosomal and Y-chromosome



Ongoing Projects:

P1: Genetic and environmental determinants of healthy ageing and longevity.

P2: Genetic basis of haematological conditions.

– Genetics of venous thrombosis (VT) risk.

– Fetal haemoglobin (HbF) gene regulation.

P3: Study of genetic variants associated with common and morbid obesity.

P4: Y-chromosome variation in Portugal: relationships with historical or demographic events

and patrilineal surnames.

P5: Ancient DNA analyses from human skeletal remains.


Personal URL: 2636-0288

Researchers (PhD)

Celeste Bento
Celeste BentoResearcher


Research group: Genes, Populations and DiseaseCeleste Bento

Institutional Address:

Hospitais da Universidade de Coimbra
Department of Clinical Hematology
Coimbra, Portugal



Research interests:

  • Hematology
  • Blood
  • Hemoglobinopathies
  • Blood Disorders
  • Erythrocytosis
  • Red Blood Cells
  • Hemoglobin M
  • Abnormal Erythrocytes

Personal URL: 2636-0288

David Albuquerque
Post-Doc Researcher
David AlbuquerquePost-Doc Researcher

Research group: Genes, Populations and Diseasealbuquerque

Institutional Address:

Research Center for Anthropology and Health (CIAS),
University of Coimbra,



Research interests

I am currently interested on the study of the genetic basis of obesity, particularly the following lines:

– To identify new genetic variants associated with the susceptibility risk to develop an obese phenotype.

– To identify mutations in the MC4R and LEPR genes associated with monogenic obesity.

– To examine the methylation levels of several CpG sites.

Overall, I am interested in identifying a genetic profile to predict the obesity susceptibility risk.


Personal URL:

Curriculum vitae

ORCID 8899-9020


Manuela Alvarez
Assistant Professor
Manuela AlvarezAssistant Professor

Research group: Genes, Populations and Disease MAlvarez

Institutional Address:

Departamento de Ciências da Vida
Faculdade de Ciências e Tecnologia
Universidade de Coimbra
Calçada Martim de Freitas
3000-456 Coimbra


Research interests: 

Genetics of Human Populations, Human Population Dynamics and Evolution.

Ongoing Projects:



Teresa Fidalgo
Teresa FidalgoResearcher


Her major research activities have been in molecular diagnosis of Haemophilia, von Willebrand Disease, thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). She is currently involved in optimisation of these studies and other coagulopathies by Next Generation Sequencing (NGS).

Research Interest: Mutation analysis; Hematologic Diseases; Human molecular genetic; Next Generation Sequencing

Research GateLink



Researchers (Non PhD)

Helena Dias
PhD Student
Helena DiasPhD Student

Research group: Genes, Populations and Disease

Institutional Address: Department of Life Sciences, University of Coimbra  


Research interests:

Human Genetics, Human Biology, Genetic basis of complex diseases, Forensic Genetics, Forensic Anthropolgy, Osteology, Skeletal Biology, Age at death estimation, DNA methylation, Ancient DNA, Burned bones, Paleopatology ; Biogeographic ancestry markers

Personal URL:




Ana Paula Arez
Ana Paula ArezResearcher
Research group:Genes, Populations and Disease
Institutional Address:
Universidade Nova de Lisboa
Instituto de Higiene e Medicina Tropical
Centro de Malária e outras Doenças Tropicais (CMDT)
Rua da Junqueira, 100
1349-008 Lisboa
Phone number: (+351)213652600Extensão: 361
Research interests:
Ana Paula Arez works in the area of Health and Biological Sciences, mainly in research related to malaria and other parasitic disease
Cristina Afonso
PhD Student
Cristina AfonsoPhD Student


Research group: Genes, Populations and Disease

Institutional Address: Research Centre for Anthropology and Health


Research interests:

  • Ancient DNA
  • Molecular Biology

Personal URL:




Janet Pereira
Janet PereiraResearcher
Maria Letícia Ribeiro
Maria Letícia RibeiroResearcher

Research group: Genes, Populations and Disease

Patrícia Martinho
Patrícia MartinhoResearcher


Research group: Genes, Populations and Disease 

Institutional Address:   


Research interests:

  • Mutation
  • Phenotyping
  • Genotype-Phenotype
  • Haemostasis
  • Genotyping
  • Direct Sequencing
  • Genetic Analysis
  • MLPA
  • Genetics
  • Single Nucleotide Polymorphism
  • Next Generation Sequencing
  • Molecular Characterization
  • PCR
  • DNA Sequencing
  • Molecular Genetics
  • DNA
  • Mutation Analysis
  • Sanger Sequencing
  • SNP Genotyping
  • DNA Sequence Analysis
  • SNP Analysis
  • DNA Genotyping
  • DNA Extraction
  • DNA Amplification
  • Thrombosis

Personal URL:



Rui Sá
Rui SáResearcher


rui sá

Research group: Genes, Populations and Disease

Institutional Address: Department of Life Sciences



Research interests:

BSc in Anthropology from the University of Lisbon, with the specialty of Ethno-Cultural and Biological Anthropology Relations (2003). Holds a Post Gradutate Diploma in Human Evolution at the University of Coimbra (2007) and Master in Evolution and Human Biology also from the University of Coimbra. His Phd was in Biological Anthropology and Ethnoecology at Univeraidade Nova de Lisboa and Cardiff University-UK, having been awarded the title of Doctor Europaeus (2013). His postdoctoral studies were performed on the recently created  HPI-Lab (Laboratory for Infectious Diseases Common to Human and Non Human Primates) in Brno, Czech Republic, belonging to the Faculty of Veterinary Medicine of the University of Veterinary and Pharmaceutical Sciences (2012-2014).

He has experience in Molecular Ecology area and Mastozoology, being expert in Primatology, but also in Parasitology, Conservation Genetics , Phylogeography and Ethnobiology of African primates with emphasis on West Africa and especially in Guinea-Bissau, where he works since 2007. Its research interests relate to Intersectionality between Biology, Ecology, Biodiversity Conservation (and in general of other species), Emerging and neglected infectious diseases, primate aging and longevity,  and ethno-cultural perceptions of wildlife. Methodologically he applies a myriad of comprehensive techniques in his studies; i.e. genetic, parasitological and ethnographic.


Ongoing Projects:

Aging and longevity in Coimbra district- ANT/00283


Closed Projects:

Development team and scientific laboratory for infectious diseases common to humans and great apes, Czech Grant Agency CZ.1.07/2.3.00/20.0300

Applied landscape genetics to chimpanzee conservation in Guinea-Bissau. United States Fisheries and Wildlife Service. Great Ape Fund, GA 0678.

Guinea-Bissau endangered chimpanzee conservation genetics: Biological Anthropology contribution to biodiversity conservation. PTDC/CS/ANT/099184/2008.

Genetic characterization of a group of chimpanzees (Pan troglodytes verus) from the coastal region of Guinea-Bissau. Portuguese Science and Technology Foundation. SFRH/BD/35797/2007

Chimpanzee distribution and relation with local human communities in coastal area of Guinea-Bissau. POCI/ANT/57434/2004

Tiago Sousa
PhD Student
Tiago SousaPhD Student


Research group: Genes, Populations and Disease 

Institutional Address:  

Departamento de Ciências da Vida

Faculdade de Ciências e Tecnologia
Universidade de Coimbra
Calçada Martim de Freitas
3000-456 Coimbra

Gabinete: 1º Piso do Colégio de S. Bento


P1:  Genetics of obesity in the Portuguese population

Objectives: To identify genetic variants associated with obesity by analysing candidate genes in large population samples and to investigate whether environmental factors such as physical activity modulates the effects of the genetic variants on obesity and obesity-related variables.
We propose to use next-generation sequencing (NGS) technology to identify novel rare genetic variants or genes influencing the development of severe obesity through a customized gene panel.

P2: Genetic basis of haematological conditions

The aim of the project is the molecular characterization of genetic blood disorders in patients with haemoglobinopathies, red blood cell enzyme defects, venous and arterial thrombosis, haemorragic diseases, congenital erythrocytosis and increased percentages of HbF, searching for genetic variants associated or potentially involved in these clinical phenotypes. This project is conducted in collaboration with the Haematology Service of Centro Hospitalar e Universitário de Coimbra (CHUC).

P3: Y-chromosome variation in Portugal: relationships with historical or demographic events and patrilineal surnames

Objectives: to identify specific lineages that could have historical or demographic significance in the Portuguese territory; to define correlations between surnames (paternally inherited) and Y-chromosome haplotypes, establishing levels of coancestry among surname cohorts.

P4: Genetic and environmental determinants of healthy ageing and longevity in the population of central Portugal

The aim of this project is to screen several cohorts of elderly people from different natural and social environments in order to define local healthy phenotypes by gender and culture, and to identify the determinants of health that can affect their development including: i) lifestyle; ii) both natural and built environmental factors; and iii) genetic and epigenetic backgrounds.

P5. Age estimation based in DNA methylation

DNA methylation levels in CpG sites of several genes emerged in last years for age estimation purposes because of its potential application in forensic genetics. The goal of this project is to develop age prediction models in biological samples of living and deceased individuals based in CpG methylation ratios of age-associated genes.

2012 and previous