Where Ideas grow
Alda Sousa
Project Leader
I graduated in Applied Mathematics, in 1977, at the Faculty of Sciences of University of Porto. (FCUP). Since then, I have been teaching at ICBAS, first Mathematics and Statistics and, later, Population Biology and Genetics. Having moved to the area of Human Genetics since 1987, I joined the team working on familial amyloid polyneuropathy (FAP) at Hospital de Santo António (Porto). My PhD thesis (1995) was on "Phenotypic variability on FAP in Portugal and Sweden". In 1998, I joined the team of UnIGENe, IBMC, while simultaneously teaching at ICBAS (Medicine and Public Health students, as well as the GABBA program). Since then I have developed some expertise in the field of Genetic Epidemiology, with research interests in the area of modifiers of age-at-onset in single-gene disorders such as FAP and in the area of complex common disorders such as migraine. I have been supervising MSc and PhD students on those research areas. My other interests are History of Genetics and genetics and society

Selected Publications

Santos D., Coelho T., Alves-Ferreira M., Sequeiros J., Mendonça D., Alonso I., Sousa A., Lemos C.,
Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients. Annals of Neurology85(2):251-258, 2019. [Journal: Article] [CI: 1] [IF: 9]
DOI: 10.1002/ana.25409 SCOPUS: 85060767805.


Dias A., Santos D., Coelho T., Alves-Ferreira M., Sequeiros J., Alonso I., Sousa A., Lemos C.,
C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients. Annals of Clinical and Translational Neurology6(4):748-754, 2019. [Journal: Article] [IF: 3,7]
DOI: 10.1002/acn3.748 SCOPUS: 85062767210.


Alves-Ferreira M., Coelho T., Santos D., Sequeiros J., Alonso I., Sousa A., Lemos C.,
A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal. Molecular Neurobiology55(5):3676-3683, 2018. [Journal: Article] [CI: 5] [IF: 4,6]
DOI: 10.1007/s12035-017-0593-4 SCOPUS: 85019539928.


Santos D., Santos M.J., Alves-Ferreira M., Coelho T., Sequeiros J., Alonso I., Oliveira P., Sousa A., Lemos C., Grazina M.,
MtDNA copy number associated with age of onset in familial amyloid polyneuropathy. Journal of Neurology Neurosurgery and Psychiatry89(3):300-304, 2018. [Journal: Article] [CI: 3] [IF: 8,3]
DOI: 10.1136/jnnp-2017-316657 SCOPUS: 85042883375.


Santos D., Coelho T., Alves-Ferreira M., Sequeiros J., Mendonça D., Alonso I., Lemos C., Sousa A.,
Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset. Annals of Clinical and Translational Neurology4(2):98-105, 2017. [Journal: Article] [CI: 6] [IF: 4,6]
DOI: 10.1002/acn3.380 SCOPUS: 85026195015.


Santos D., Coelho T., Alves-Ferreira M., Sequeiros J., Mendonça D., Alonso I., Lemos C., Sousa A.,
Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). European Journal of Human Genetics24(5):756-760, 2016. [Journal: Article] [CI: 23] [IF: 4,3]
DOI: 10.1038/ejhg.2015.180 SCOPUS: 84939553337.


Lemos C., Coelho T., Alves-Ferreira M., Martins-Da-Silva A., Sequeiros J., Mendonça D., Sousa A.,
Overcoming artefact: Anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M. Journal of Neurology Neurosurgery and Psychiatry85(3):326-330, 2014. [Journal: Article] [CI: 33] [IF: 6,8]
DOI: 10.1136/jnnp-2013-305383 SCOPUS: 84896709791.


Lemos C., Pereira-Monteiro J., Mendonça D., Ramos E.M., Barros J., Sequeiros J., Alonso I., Sousa A.,
Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study. Archives of Neurology67(4):422-427, 2010. [Journal: Article] [CI: 8] [IF: 7,1]
DOI: 10.1001/archneurol.2010.37 SCOPUS: 77950873164.


Lemos C., Mendonça D., Pereira-Monteiro J., Barros J., Sequeiros J., Alonso I., Sousa A.,
BDNF and CGRP interaction: Implications in migraine susceptibility. Cephalalgia30(11):1375-1382, 2010. [Journal: Article] [CI: 28] [IF: 4,3]
DOI: 10.1177/0333102410368443 SCOPUS: 79751474283.


Soares M.L., Coelho T., Sousa A., Batalov S., Conceição I., Sales-Luís M.L., Ritchie M.D., Williams S.M., Nievergelt C.M., Schork N.J., Saraiva M.J., Buxbaum J.N.,
Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: Complexity in a single-gene disease. Human Molecular Genetics14(4):543-553, 2005. [Journal: Article] [CI: 89] [IF: 7,8]
DOI: 10.1093/hmg/ddi051 SCOPUS: 14044275133.