Clinical & Experimental Human Genomics


Principal Investigator:

Paula Jorge

Paula Jorge, PhD

PhD Researchers:

Bárbara Oliveira
Carla Maria Carmona
Célia Soares
Esmeralda Martins
Bárbara Oliveira, PhD
Carla Maria Carmona, PhD
Célia Azevedo Soares, MD, PhD
Esmeralda Martins, MD, PhD

Isabel Marques
Lúcia Lacerda
Márcia Oliveira
M. J. Nabais Sá
Isabel Marques, PhD
Lúcia Lacerda, PhD
Márcia Oliveira, PhD
M.J. Nabais Sá, MD, PhD

Natália Oliva-Teles
Natália Santos Ferreira
Rosário Santos

Natália Oliva-Teles, PhD
Natália Santos Ferreira, PhD
Rosário Santos, PhD

PhD Students:

Bárbara Rodrigues
Dulce Quelhas
Joana Damásio
Mariana R. Pereira
Nuno Maia
Bárbara Rodrigues, MSc
Dulce Quelhas, MSc

Joana Damásio, MD

Mariana R. Pereira, MSc
Nuno Maia, MSc

Other collaborators:

Ana Maria Fortuna
Ana Rita Gonçalves
Cecília Silva Cristina Candeias
Ana Maria FT Fortuna, MD
Ana Gonçalves, MSc
Cecília Silva, BSc
Cristina Candeias, MSc

Emília Vieira
Flávia Santos Isaura Ribeiro
Manuela Mota Freitas
Emília Vieira, MSc
Flávia Santos, BSc
Isaura Ribeiro, MSc
Manuela Mota Freitas, MSc

Mª Manuela Silva Ferreira Almeida
Mónica Gouveia
Sílvia Álvares
Mª Manuela S.F. Almeida, MSc
Mónica Gouveia, MSc
Sílvia Álvares, MD


The Clinical and Experimental Human Genomics group (CEHG) is integrated in a healthcare provider institution and was established in 2013, gathering key individuals in the field of clinical genetics that work together towards the development of human genomics research, at both basic and translational levels, with direct impact and benefit of patients and ultimately the healthcare service.

This group aims to understand the importance of heredity and the consequences of genetic disease in the general population, specific ethnic groups, whole families at risk and single individuals. Ongoing research main goals include improvement of the molecular, biochemical and clinical understanding of chromosomal abnormalities, neuromuscular and metabolic disorders, with a focal point in intellectual disabilities. These experimental areas are interlinked and share technological, clinical as well as bioinformatic resources. Complementary to the above a new line of research in bioethics has been recently initiated. In strict collaboration with the more experimental teams, are the clinical collaborators that include Nutrition and Psychology specialists. They will continue to support their patients’ healthcare and their research work in the setting of the Medical Genetics consultations. Researchers are also involved in setting up multidisciplinary education modules for scientific dissemination activities in their expertise area as well as for Clinical Laboratory and Medical Genetics specializations. The organizational structure, involving efforts from multidisciplinary teams, including all medical specialities, allows availability of better procedures, processes simplification and minimizing the resources needed. Overall, CEHG research projects result in a continuing development of the diagnostic trajectory in the endeavour to find more effective treatment and improve genetic counselling.


Translational research specific goals in genomics include:

  • Identification of new syndromes and solving cases of rare genetic disorders with implications in the molecular diagnosis and improvement of the disease characterization;

  • Establish new therapeutical approaches and patient registry and databases;

  • Development and implement new diagnostic tests to screen for inherited metabolic diseases, chromosomal anomalies and neuromuscular disorders, cardiomyopathies, female reproductive function decline, neurological, neurogenerative and neurodevelopmental impairment, lysosomal, peroxisomal and glycosylation disorders in  Portuguese high risk populations. Results of this research are often used in retrospective clinical studies, reviews and clinical trials

  • Create bioinformatic tools to improve the in silico assessment of pathogenicity for genomic variants

  • Follow-up of individuals with phenylketonuria and rare genetic syndromes in terms of nutritional and neurocognitive assessment for dietetic treatment management as well as research.

Focus areas:

  • Rare syndromes

  • Mental and neuromuscular disorders, inborn errors of metabolism

  • Molecular and biochemical causes of genetic diseases

  • Nutrition, Dietetics

  • Medical Ethics

  • Medical Biotechnology:

    • Technologies - Manipulation of Cells, Tissues, Organs or the Whole Organisms

    • Technologies - Identification of the Functioning of DNA, Proteins and Enzymes and its relation with the Disease

    • BioBanking, Registries and databases, Bioinformatic tools development

Highlighted publications:

    1. Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi  V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El  Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J,  Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. PubMed PMID: 25604253; PubMed Central PMCID: PMC4405042.

    2. Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton  P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M,  Topaloglu H, Jaeken J, Foulquier F, Matthijs G. MAN1B1 deficiency: an unexpected  CDG-II. PLoS Genet. 2013;9(12):e1003989. doi: 10.1371/journal.pgen.1003989. Epub  2013 Dec 12. PubMed PMID: 24348268; PubMed Central PMCID: PMC3861123.

    3. Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M,Fraga JM, Lacerda L, Gouveia S,  Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. Orphanet J Rare Dis. 2014 Apr 25;9:59.  doi: 10.1186/1750-1172-9-59. PubMed PMID: 24767253; PubMed Central PMCID: PMC4024120.

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