Biology and Genetics of Reproduction


Principal Investigator:

Mário Sousa
Mário de Sousa, MD, PhD

PhD Researchers:

David Martín-Hidalgo

Ivana Jarak

Joana Vieira Silva

Jorge Oliveira
David Martín-Hidalgo, DVM, PhD
Ivana Jarak, PhD
Joana V. Silva, PhD
Jorge Oliveira, PhD

Marco G. AlvesPedro F. OliveiraRaquel BernardinoRosália Sá
Marco G. Alves, PhDPedro F. Oliveira, PhDRaquel Bernardino, PhDRosália Sá, PhD

PhD Students:

Ana D. Martins
David F. Carrageta
Luís Crisóstomo Rute Pereira
Ana D. Martins, MSc
David F. Carrageta, MSc
Luís Crisóstomo, MSc Rute Pereira, MSc

Susana de Almeida
Tânia R. Dias

Susana de Almeida, MSc
Tânia R. Dias, MSc

Other collaborators:

Ana M. Silva
Anette Veiga
Ângela Alves
Bruno Moreira
Cassandra Santos
Ana Maria Silva, MSc
Anette Veiga, BSc
Ângela Alves, BSc
Bruno Moreira, MSc
Cassandra Santos

Elsa Oliveira

João P. Ribeiro

Patrícia Braga

Sara C. Pereira
Elsa Oliveira, MSc
João C. Ribeiro, BSc
Patrícia Braga, BSc
Sara C. Pereira, BSc


The BGR group performs clinical diagnosis to Hospitals and is involved in translational research in the fields of biology, physiology, endocrinology, toxicology and genetics of reproduction. During this period, the main contributions relied in:

  1. discover of new gene mutations causing human diseases (male infertility; neuromuscular diseases);

  2. enlighten the molecular mechanisms underlying the metabolic regulation of spermatogenesis;

  3. determine the impact of metabolic-related diseases on human fertility and mechanisms responsible for such phenomena;

  4. study the impact of endocrine disruptors and environmental toxins on male fertility;

  5. establishment of international patents with a direct application in reproductive medicine.


The main goal of the Group is to coordinate research efforts from the present Laboratory with other Laboratories and Institutions in order to contribute to further translate basic research on human infertility to clinical applications.

Main research areas:

Human reproductive biology and genetics.

  • Methods of sperm purification.
  • Genomic analysis of sperm immotility.
  • Methods of spermatogenic stem cell purification.

Human reproduction and embryology.

  • Analysis of outcomes after IVF, ICSI and TESE infertility treatments.

Male fertility preservation.

  • Development of cryopreservation methods for testicular germ cell suspensions and stem cells.

Human spermatogenesis.

  • Endocrinologic physiology of Sertoli cells in healthy individuals, obese and diabetic patients, and in Sertoly cell syndrome.
  • Estrogen receptors.
  • Spermatogenesis in-vitro.

Molecular biology of reproduction.

  • Physiology of Sertoli cells in rats and rat cell lines.


  • Transmission electron microscopy for cilia defects, sperm morphology abnormalities and oocyte dimorphisms. Occasionally also for platelet disorders.


  • Implementation of new techniques and technologies in reproductive centres.
  • Patient infertility evaluation for full diagnosis and treatment advice.

Highlighted publications:

  1. Rato L, Alves MG, Duarte AI, Santos MS, Moreira PI, Cavaco JE, Oliveira PF (2015) Testosterone deficiency induced by progressive stages of diabetes mellitus impairs glucose metabolism and favors glycogenesis in mature rat Sertoli cells. International Journal of Biochemistry & Cell Biology. 66:1-10. doi: 10.1016/j.biocel.2015.07.001

  2. Sá R, Cunha M, Rocha E, Barros A, Sousa M (2015) Sequential sperm preparation technique and deoxyribonucleic acid fragmentation in relation to sperm parameters and morphological staining patterns in infertile males. Reproductive BioMedicine Online 31 (4): 506-515. doi: 10.1016/j.rbmo.2015.06.019

  3. Jesus TT, Oliveira PF, Silva J, Barros A, Ferreira R, Sousa M, Cheng CY, Silva BM, Alves MG (2016) Mammalian target of rapamycin controls glucose consumption and redox balance in human Sertoli cells. Fertility and Sterility. 105(3):825–833. doi: 10.1016/j.fertnstert.2015.11.032

  4. Rita Lopes, Mário Sousa, Joaquina Silva, Mariana Cunha, Cristiano Oliveira, José Teixeira da Silva, Luís Ferraz, Teresa Coelho, Filipa Carvalho, Alberto Barros (2017) Clinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease (familial amyloid polyneuropathy). Reproductive Biomedicine Online. Oct 12. pii: S1472-6483(17)30565-5. doi: 10.1016/j.rbmo.2017.09.010

Photo gallery:

Lab 1 - By Joana Carvalheiro

Last Updated on Tuesday, 03 September 2019 21:05  

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