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
Researchers (PhD)
Researchers (Non PhD)

Collaborators
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.