Where Ideas Grow
Susana Seixas
Genetic Diversity
Junior Researcher
Susana Seixas is currently a researcher and a principal investigator at the Genetic Diversity group. Susana graduated in Biological Sciences in 1995, and later got a Master in Applied Human Genetics in 1998 and a PhD in Biology in 2003 (FCUP). As a postdoctoral fellow, Susana developed her research activities between the IPATIMUP and the Department of Human Genetics from the University Chicago (USA). In 2008, she was hired by IPATIMUP as a "Ciência2007" researcher and since then Susana led two national grants, and supervised several students at different stages of their careers (MSc, PhD and post-doc). Susana studies are presently centered in the reproductive and respiratory systems with a greater focus in proteolysis-related genes, their evolution, variation and contribution to human health and disease. Other activities include the collaboration with IPATIMUP Diagnostics, where she is the head of the genotyping service for the diagnosis of alpha-1-antitrypsin deficiency.

Selected Publications

Gomes S., Cavadas B., Ferreira J.C., Marques P.I., Monteiro C., Sucena M., Sousa C., Vaz Rodrigues L., Teixeira G., Pinto P., Tavares de Abreu T., Bárbara C., Semedo J., Mota L., Carvalho A.S., Matthiesen R., Pereira L., Seixas S.,
Profiling of lung microbiota discloses differences in adenocarcinoma and squamous cell carcinoma. Scientific Reports9(1):, 2019. [Journal: Article] [CI: 61] [IF: 4]
DOI: 10.1038/s41598-019-49195-w SCOPUS: 85071896383.


Malik R., Dau T., Gonik M., Sivakumar A., Deredge D.J., Edeleva E.V., Götzfried J., Van Der Laan S.W., Pasterkamp G., Beaufort N., Seixas S., Bevan S., Lincz L.F., Holliday E.G., Burgess A.I., Rannikmäe K., Minnerup J., Kriebel J., Waldenberger M., Müller-Nurasyid M., Lichtner P., Saleheen D., Woo D., Debette S., Maguire J., Cole J.W., Majersik J., Jimenez-Conde J., Lee J.M., Rost N., Pare G., Jern C., Lindgren A.G., Cardenas I.F., Rothwell P.M., Levi C., Attia J., Sudlow C.L.M., Braun D., Markus H.S., Wintrode P.L., Berger K., Jenne D.E., Dichgans M.,
Common coding variant in SERPINA1 increases the risk for large artery stroke. Proceedings of the National Academy of Sciences of the United States of America114(14):3613-3618, 2017. [Journal: Article] [CI: 41] [IF: 9,5]
DOI: 10.1073/pnas.1616301114 SCOPUS: 85016951331.


Marques P.I., Fonseca F., Carvalho A.S., Puente D.A., Damião I., Almeida V., Barros N., Barros A., Carvalho F., Azkargorta M., Elortza F., Osório H., Matthiesen R., Quesada V., Seixas S.,
Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes. Human Reproduction31(12):2881-2891, 2016. [Journal: Article] [CI: 9] [IF: 5]
DOI: 10.1093/humrep/dew267 SCOPUS: 85014430506.


Silva D., Oliveira M.J., Guimarães M., Lima R., Gomes S., Seixas S.,
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal. Respiratory Medicine116:8-18, 2016. [Journal: Article] [CI: 46] [IF: 3,2]
DOI: 10.1016/j.rmed.2016.05.002 SCOPUS: 84966293248.


Marques P.I., Fonseca F., Sousa T., Santos P., Camilo V., Ferreira Z., Quesada V., Seixas S.,
Adaptive evolution favoring KLK4 downregulation in East Asians. Molecular Biology and Evolution33(1):93-108, 2016. [Journal: Article] [CI: 4] [IF: 6,2]
DOI: 10.1093/molbev/msv199 SCOPUS: 84964766126.


Ferreira Z., Seixas S., Andrés A.M., Kretzschmar W.W., Mullikin J.C., Cherukuri P.F., Cruz P., Swanson W.J., Clark A.G., Green E.D., Hurle B.,
Reproduction and immunity-driven natural selection in the human WFDC locus. Molecular Biology and Evolution30(4):938-950, 2013. [Journal: Article] [CI: 15] [IF: 14,3]
DOI: 10.1093/molbev/mss329 SCOPUS: 84875635332.


Marques P.I., Bernardino R., Fernandes T., Green E.D., Hurle B., Quesada V., Seixas S.,
Birth-and-death of KLK3 and KLK2 in primates: Evolution driven by reproductive biology. Genome Biology and Evolution4(12):1331-1338, 2012. [Journal: Article] [CI: 12] [IF: 4,8]
DOI: 10.1093/gbe/evs111 SCOPUS: 84876535104.


Seixas S., Suriano G., Carvalho F., Seruca R., Rocha J., Di Rienzo A.,
Sequence diversity at the proximal 14q32.1 SERPIN subcluster: Evidence for natural selection favoring the pseudogenization of SERPINA2. Molecular Biology and Evolution24(2):587-598, 2007. [Journal: Article] [CI: 18] [IF: 6,4]
DOI: 10.1093/molbev/msl187 SCOPUS: 33846805804.


Seixas S., Garcia O., Trovoada J.M., Santos T.M., Amorim A., Rocha J.,
Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: Insights into the natural history of the a1-antitrypsin polymorphism. Human Genetics108(1):20-30, 2001. [Journal: Article] [CI: 52] [IF: 3,2]
DOI: 10.1007/s004390000434 SCOPUS: 0035129485.


Monteiro C., Marques P.I., Cavadas B., Damião I., Almeida V., Barros N., Barros A., Carvalho F., Gomes S., Seixas S.,
Characterization of microbiota in male infertility cases uncovers differences in seminal hyperviscosity and oligoasthenoteratozoospermia possibly correlated with increased prevalence of infectious bacteria. American Journal of Reproductive Immunology79(6):, 2018. [Journal: Article] [CI: 59] [IF: 3,1]
DOI: 10.1111/aji.12838 SCOPUS: 85042680377.