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

Research group: Genes, Populations and Disease (Group Coordinator)
Institutional Address:
Research Centre for Anthropology and Health (CIAS)
Department of Life Sciences
Email: lmanco@antrop.uc.pt
Phone number: +351 239 240 700
Research interests:
- Genetic basis of human variation, in both normal and disease phenotypes;
- Genetic basis of complex diseases, including obesity and haematological conditions;
- Molecular basis of human genetic diseases, with a particular focus on red cell enzyme deficiencies;
- Population genetic studies using common genetic variation in autosomal and Y-chromosome loci.
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:
https://www.researchgate.net/profile/Licinio_Manco
https://orcid.org/0000-0002-2636-0288
http://www.degois.pt/visualizador/curriculum.jsp?key=6067775827694493
https://www.scopus.com/authid/detail.uri?authorId=6701505412
Researchers

Research group: Genes, Populations and Disease
Institutional Address:
Email: celeste.bento@chuc.min-saude.pt
Research interests:
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Hematology
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Blood
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Hemoglobinopathies
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Blood Disorders
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Erythrocytosis
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Red Blood Cells
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Hemoglobin M
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Abnormal Erythrocytes
Personal URL:
https://independent.academia.edu/CelesteBento
https://orcid.org/0000-0003-1080-411X
https://www.scopus.com/authid/detail.uri?authorId=7003495294

Research group: Genes, Populations and Disease
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:
- Identify new genetic variants associated with the susceptibility risk to develop an obese phenotype.
- Identify mutations in the MC4R and LEPR genes associated with monogenic obesity.
- 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:
http://www.degois.pt/visualizador/curriculum.jsp?key=6209402451024566

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
Portugal
Email:
alvarez@antrop.uc.pt
Research interests:
Genetics of Human Populations, Human Population Dynamics and Evolution.
Personal URL
https://www.cienciavitae.pt/portal/3F14-40E4-2DAE
ORCID iD: 0000-0002-0336-2299
http://www.degois.pt/visualizador/curriculum.jsp?key=5306830375143950

Research group: Genes, Populations and Disease

PhD, Responsable for the Laboratory of Molecular Hematology, University Hospital Center of Coimbra
Research group: Genes, Populations and Disease
Research Interest: Mutation analysis; Hematologic Diseases; Human molecular genetic; Next Generation Sequencing
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).
Personal URL:
Researchers (PhD Students)


Research group: Genes, Populations and Disease
Institutional Address: Department of Life Sciences, University of Coimbra
Email: helenadias_3@hotmail.com
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:
Collaborators



Research group: Genes, Populations and Disease
Institutional Address: Research Centre for Anthropology and Health
Email: capa105@gmail.com
Research interests:
- Ancient DNA
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Molecular Biology
Personal URL:
https://coimbra.academia.edu/CristinaAfonso
https://www.researchgate.net/profile/Cristina_Afonso3/info

Research group: Genes, Populations and Diseases
Institutional Address:
University of Coimbra
Mestrado em Biologia Celular e Molecular – Universidade de Coimbra
Research interests:
- Genetics;
- Genomics;
- Proteomics;
- NGS;
- WGS;
- Epigenetics;
- Erythrocytosis;
- Molecular hematology;
- Cancer;
- Hereditary diseases
Personal URL:
Genetics of obesity in the Portuguese population
Duration: 2015 – 2023
Duration: 2016 – 2017
Duration: 2016 – 2023
Integrating human omics data for discovering common susceptibility polygenic profiles for obesity
Duration: 2017 – 2019
Age estimation based in DNA methylation
Duration: 2017 – 2020
The influence of genes variability of the central nervous system related to
obesity on the establishment and evolution of eating disorders
Duration: 2018 – 2020
Genetic basis of haematological conditions
Duration: 2018 – 2023
Duration: 2018 – 2023