Genes, Populations and Disease

ObjectivesResearchersProjectsPublications

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

Coordinator

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

Email: lmanco@antrop.uc.pt

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

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

http://orcid.org/0000-0002- 2636-0288

Researchers

Celeste Bento
Researcher
Celeste BentoResearcher

 

Research group: Genes, Populations and DiseaseCeleste Bento

Institutional Address:

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

Email: celeste.bento@chuc.min-saude.pt

 

Research interests:

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

Personal URL:

https://independent.academia.edu/CelesteBento

http://orcid.org/0000-0002- 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,

Email: dav.albuquerque@gmail.com

 

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

http://www.degois.pt/visualizador/curriculum.jsp?key=6209402451024566

ORCID

http://www.orcid.org/0000-0001- 8899-9020

ResearchGate

https://www.researchgate.net/profile/David_Albuquerque

Manuela Alvarez
Assistant Professor
Manuela AlvarezAssistant Professor
Maria Letícia Ribeiro
Researcher
Maria Letícia RibeiroResearcher

Research group: Genes, Populations and Disease

Rui Sá
Researcher
Rui SáResearcher

 

rui sá

Research group: Genes, Populations and Disease

Institutional Address: Department of Life Sciences

E-mail: rms@uc.pt

 

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

Collaborators

Ana Paula Arez
Researcher
Ana Paula ArezResearcher
Research group:Genes, Populations and Disease Ana_Arez
Institutional Address:
Universidade Nova de Lisboa
Instituto de Higiene e Medicina Tropical
Centro de Malária e outras Doenças Tropicais (CMDT)
Rua da Junqueira, 100
Lisboa
1349-008 Lisboa
Phone number: (+351)213652600Extensão: 361
E-mail: aparez@ihmt.unl.pt
Research interests:
Ana Paula Arez works in the area of Health and Biological Sciences, mainly in research related to malaria and other parasitic disease
Janet Pereira
Researcher
Janet PereiraResearcher
Luís Relvas
Researcher
Luís RelvasResearcher
Rui Martiniano
PhD student
Rui MartinianoPhD student
Teresa Fidalgo
Researcher
Teresa FidalgoResearcher

P1: Genetic basis of common forms of obesity

Objectives: The main goal of this project is to analyse candidate genes in samples of Portuguese children and adults, in order to identify genetic variability that could explain the obese phenotype.

P2: Genetic basis of haematological conditions

Genetics of red cell enzyme deficiencies: mutation profile and selective or demographic influencing factors.Objectives: to identify mutations in genes such as G6PD, PK, TPI, P5N, HK or GPI leading to red cell enzyme deficiencies; to understand signatures of selective or demographic events underlying mutated allele distribution.

Fetal haemoglobin (HbF) gene regulation

Objectives: To analyse genetic diversity associated with HbF production in adults.

Genetics of venous thrombosis (VT) risk.

Objectives: To analyse candidate loci associated with VT susceptibility.

P3: Genetic and environmental determinants of healthy ageing and longevity in the population of central Portugal

Objectives: 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 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 background.

P4: 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.

P5: Genetic variants associated with Congenital Erythrocytosis in the Portuguese Population

Congenital Erythrocytosis (CE) represents a rare and heterogeneous clinical entity. It is caused by deregulated erythropoiesis where red blood cell overproduction results in elevated hemoglobin and hematocrit levels.  This study is focused on molecular pathophysiology of CE. It was aimed to contribute to the understanding of the etiology of the molecular basis of CE through the:

– Description of the etiology and molecular basis of CE in a group of unrelated Portuguese patients classified as idiopathic erythrocytosis.

– Curation of the online erythrocytosis database, focused on the registration of clinical history, hematological, biochemical and molecular data of the patients, in order to promote the collaboration and spread of information between physicians and scientists in different European countries.

2016
2015
2014
2013
2012 and previous