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Alda Sousa graduated (BSc) in Applied Mathematics, Sciences Faculty, Univ. Porto (1977); got a PhD in Biomedical Sciences (Genetics), ICBAS, Univ. Porto (1995) and Agregação at ICBAS, Univ. Porto (2003). PhD thesis focused on Phenotypic Variability of ATTRV30M in Portugal and in Sweden. Associate Professor at ICBAS, Univ. Porto, she has taught Basic Genetics to medical and aquatic sciences undergraduate students and Genetic Epidemiology to graduate students (MSc in Public Health and Doctoral GABBA program (now suspended)) and Topics in Statistical Genetics to Graduate Program in Applied Mathematics. (2008-2012). She retired from teaching in 2021, but keeps her supervisions and her research at ICBAS. Researcher at UnIGENe (IBMC, i3S, Univ. Porto) from 1998-2023, her topics include Neurogenetics (familial amyloid polyneuropathy, Huntington¿s disease and Machado-Joseph disease) and common disorders (migraine and hypodontia). Main research interest has been modifier genes for age-at-onset in familial amyloid polyneuropathy (FAP-ATTRV30M), in a longstanding collaboration between IBMC and Amyloidosis Unit at Centro Hospitalar Universitário do Porto (CHUP), now transferred to UMIB. Her field of specialization is Human Genetics, Genetic Epidemiology and Statistical Genetics. Coordinator (or co-coordinator) of (one week courses) on Human disease and gene mapping; Finding genes for human disease: from genetics to genomics; Genetic Epidemiology and Applications to Common Diseases as a collaboration between IBMC and the Doctoral GABBA Program (2000-2005). She supervised/co-supervised 6 PhD (1 still ongoing) and 7 MSc students. She is author of 44 papers in International peer-reviewed journals (of which 16 as first or last author), more than 120 oral communications and around 180 posters. Other research interests are History of Genetics, and Genetics and Society. She is a member of Genetics, Medicine and History Network, since 2005 and of Community Genetics Network, since 2009. She was a founder member of SPGH (Portuguese Human Genetics Society) in 1996 and International Genetic Epidemiology Society (1991). In 2013 she took part in a documentary ¿A história de um erro¿ (on FAPATTRV30M) by Joana Barros (2013, 61¿) that was awarded the First prize of Ciencia en Acción 2014. First shown in a Shortcuts Festival (Vila do Conde, 2013), its exhibition has extended and been accompanied by debates for diverse audiences.
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Identification

Personal identification

Full name
Alda Maria Botelho Correia de Sousa

Citation names

  • Sousa, Alda

Author identifiers

Ciência ID
071C-4391-DD49
ORCID iD
0000-0001-5441-1815
Scopus Author Id
7202484490

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics

Languages

Language Speaking Reading Writing Listening Peer-review
English Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2)
French Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Spanish; Castilian Upper intermediate (B2) Advanced (C1) Beginner (A1) Advanced (C1)
German Elementary (A2) Intermediate (B1) Elementary (A2) Elementary (A2)
Portuguese (Mother tongue)
Education
Degree Classification
2003
Concluded
 - (Título de Agregado)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Approved unanimously
1995/11/10
Concluded
 PhD in Biomedical Sciences (Doutoramento em Ciências Biomédicas)- Genetics (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"A variabilidade fenotípica da Polineuropatia Amiloidótica Familiar: um estudo de genética quantitativa em Portugal e na Suécia (Phenotypic variability of Familial Amyloid Polyneuropathy: a quantitative genetics study in Portugal and in Sweden)" (THESIS/DISSERTATION)
 Approved unanimously with honors
1977
Concluded
 BSc in Applied Mathematics (Licenciatura em Matemática Aplicada) (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"N/A" (THESIS/DISSERTATION)
 14 (out of 20)
Affiliation

Teaching in Higher Education

Category
Host institution 		Employer
2000 - 2021 Associate Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1995 - 2000 Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1985 - 1995 Invited Assistant (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1977 - 1985 Assistant (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Others

Category
Host institution 		Employer
1988 - Current Collaborator of Clinical Amyloidosis Unit (Unidade Clínica Paramiloidose) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1998 - 2023/12/31 Researcher Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Projects

Grant

Designation Funders
2017 - 2022/12/31 Deciphering how epigenomic changes correlates with age-at-onset variation in familial amyloid polyneuropathy (FAP ATTRV30M) (started in December 2017)
2017 Research Grant (Amyloidosis Foundation)
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Amyloidosis Foundation
Ongoing
2017 - 2022/12/31 Deciphering the genetic network associated with age-at-onset variability: increasing awareness of genetic carriers WI216825_ IIR ASPIRE
WI216825_ IIR ASPIRE
Scientific Initiation Fellow
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Laboratórios Pfizer Ltda
Ongoing

Contract

Designation Funders
2023/03/01 - 2026/02/28 The genetic maze of Familial Amyloid Polyneuropathy ATTRV30M: a genomic approach
2022.01656.PTDC
10.54499/2022.01656.PTDC
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2021/01/01 - 2025/12/31 Institute for Research and Innovation in Health
LA/P/0070/2020
10.54499/LA/P/0070/2020
Instituto de Astrofísica e Ciências do Espaço, Portugal

Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Instituto Nacional de Engenharia Biomédica, Portugal

Universidade do Porto, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2018/07/01 - 2022/06/30 Clinical and Genetic study of primary headaches and the most relevant associated comorbidities
PTDC/MEC-NEU/29486/2017
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2019 - 2022 Analysis and correlation between epigenetics and brain activity to assess the risk of chronic and episodic migraine in women
FEDER coop. INTERREG VA Spain-Portugal (POCTEP)
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 N/A
Ongoing
2017 - 2020 GenomePT – Portuguese Roadmap of Research Infrastructures
POCI-01-0145-FEDER-022184
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2016/05/01 - 2019/04/30 NORTE-01-0145-FEDER-000008 - Porto Neurosciences and Neurologic Disease Research Initiative at I3S
NORTE-01-0145-FEDER-000008
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluded
2013/01/01 - 2015/06/01 NORTE-07-0124-FEDER-000001 - Neurodegenerative Disorders
CCDRN- NORTE-07-0124-FEDER-000001
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluded
2010/05/01 - 2013/10/31 Phenotypic variability and modifier genes in Familial Amyloid Polyneuropathy (FAP ATTRV30M)
PTDC/SAU-GMG/100240/2008
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Centro Hospitalar Universitário do Porto EPE, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2010/06/01 - 2013/05/31 Search for disease modifiers in spinocerebellar ataxias: human and animal-based approaches
PTDC/SAU-GMG/100913/2008
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2001 - 2004 Genetics of Migraine
FCT – Proj 34390/99
FCT Proj 34390/99
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Journal article
  1. Dias, Andreia; Santos, Mariana; Carvalho, Estefânia; Felício, Daniela; Silva, Paulo; Alves, Ivânia; Pinho, Teresa; et al. "Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine". Clinical Genetics 104 4 (2023): 479-485. http://dx.doi.org/10.1111/cge.14379.
    Open access • 10.1111/cge.14379
  2. Carvalho, Estefânia; Dias, Andreia; Sousa, Alda; Lopes, Alexandra M.; Martins, Sandra; Pinto, Nádia; Lemos, Carolina; Alves-Ferreira, Miguel. "A High Methylation Level of a Novel -284 bp CpG Island in the RAMP1 Gene Promoter Is Potentially Associated with Migraine in Women". Brain Sciences 12 5 (2022): 526. http://dx.doi.org/10.3390/brainsci12050526.
    10.3390/brainsci12050526
  3. Dias, Andreia; Mariz, Tiago; Sousa, Alda; Lemos, Carolina; Alves-Ferreira, Miguel. "A review of migraine genetics: gathering genomic and transcriptomic factors". Human Genetics 141 1 (2021): 1-14. http://dx.doi.org/10.1007/s00439-021-02389-7.
    Published • 10.1007/s00439-021-02389-7
  4. Alves-Ferreira, M.; Azevedo, A.; Coelho, T.; Santos, D.; Sequeiros, J.; Alonso, I.; Sousa, A.; Lemos, C.. "Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis". Amyloid (2021): http://www.scopus.com/inward/record.url?eid=2-s2.0-85099554603&partnerID=MN8TOARS.
    In press • 10.1080/13506129.2020.1857236
  5. Alves-Ferreira, M.; Quintas, M.; Sequeiros, J.; Sousa, A.; Pereira-Monteiro, J.; Alonso, I.; Neto, J.L.; Lemos, C.. "A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study". Journal of Headache and Pain 22 1 (2021): http://www.scopus.com/inward/record.url?eid=2-s2.0-85107834568&partnerID=MN8TOARS.
    10.1186/s10194-021-01266-y
  6. Quintas, M.; Neto, J.L.; Sequeiros, J.; Sousa, A.; Pereira-Monteiro, J.; Lemos, C.; Alonso, I.. "Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility – A Case-Control Association Study". Headache 60 10 (2020): 2152-2165. http://www.scopus.com/inward/record.url?eid=2-s2.0-85091464142&partnerID=MN8TOARS.
    10.1111/head.13957
  7. Dias, Andreia; Santos, Diana; Coelho, Teresa; Alves-Ferreira, Miguel; Sequeiros, Jorge; Alonso, Isabel; Sousa, Alda; Lemos, Carolina. "C1 QA and C1 QC modify age-at-onset in familial amyloid polyneuropathy patients". Annals of Clinical and Translational Neurology 6 4 (2019): 748-754. http://dx.doi.org/10.1002/acn3.748.
    10.1002/acn3.748
  8. 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 Neurology 85 2 (2019): 251-258. http://www.scopus.com/inward/record.url?eid=2-s2.0-85060767805&partnerID=MN8TOARS.
    10.1002/ana.25409
  9. Santos, D.; Santos, M.J.; Alves-Ferreira, M.; Coelho, T.; Sequeiros, J.; Alonso, I.; Oliveira, P.; et al. "MtDNA copy number associated with age of onset in familial amyloid polyneuropathy". Journal of Neurology, Neurosurgery and Psychiatry 89 3 (2018): 300-304. http://www.scopus.com/inward/record.url?eid=2-s2.0-85042883375&partnerID=MN8TOARS.
    10.1136/jnnp-2017-316657
  10. 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 Neurobiology 55 5 (2018): 3676-3683. http://www.scopus.com/inward/record.url?eid=2-s2.0-85019539928&partnerID=MN8TOARS.
    10.1007/s12035-017-0593-4
  11. 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 Neurology 4 2 (2017): 98-105. http://www.scopus.com/inward/record.url?eid=2-s2.0-85026195015&partnerID=MN8TOARS.
    Open access • Published • 10.1002/acn3.380
  12. 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 Genetics 24 5 (2016): 756-760. http://www.scopus.com/inward/record.url?eid=2-s2.0-84939553337&partnerID=MN8TOARS.
    10.1038/ejhg.2015.180
  13. Alves-Ferreira, M.; Pinho, T.; Sousa, A.; Sequeiros, J.; Lemos, C.; Alonso, I.. "Identification of genetic risk factors for maxillary lateral incisor agenesis". Journal of Dental Research 93 5 (2014): 452-458. http://www.scopus.com/inward/record.url?eid=2-s2.0-84898950873&partnerID=MN8TOARS.
    10.1177/0022034514523986
  14. 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 Psychiatry 85 3 (2014): 326-330. http://www.scopus.com/inward/record.url?eid=2-s2.0-84896709791&partnerID=MN8TOARS.
    10.1136/jnnp-2013-305383
  15. Barros, J.; Damásio, J.; Tuna, A.; Alves, I.; Silveira, I.; Pereira-Monteiro, J.; Sequeiros, J.; et al. "Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large portuguese family". JAMA Neurology 70 2 (2013): 235-240. http://www.scopus.com/inward/record.url?eid=2-s2.0-84874027219&partnerID=MN8TOARS.
    10.1001/jamaneurol.2013.591
  16. Quintas, M.; Neto, J.L.; Pereira-Monteiro, J.; Barros, J.; Sequeiros, J.; Sousa, A.; Alonso, I.; Lemos, C.. "Interaction between ¿-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility". PLoS ONE 8 9 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84883511876&partnerID=MN8TOARS.
    10.1371/journal.pone.0074087
  17. Lemos, C.; Alonso, I.; Barros, J.; Sequeiros, J.; Pereira-Monteiro, J.; Mendonça, D.; Sousa, A.. "Assessing Risk Factors for Migraine: Differences in Gender Transmission". PLoS ONE 7 11 (2012): http://www.scopus.com/inward/record.url?eid=2-s2.0-84869801948&partnerID=MN8TOARS.
    10.1371/journal.pone.0050626
  18. Lemos, C.; Neto, J.L.; Pereira-Monteiro, J.; Mendonça, D.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A.. "A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients". European Journal of Neurology 18 4 (2011): 649-655. http://www.scopus.com/inward/record.url?eid=2-s2.0-79952721018&partnerID=MN8TOARS.
    10.1111/j.1468-1331.2010.03239.x
  19. Pinho, T.; Pollmann, C.; Calheiros-Lobo, M.J.; Sousa, A.; Lemos, C.. "Craniofacial repercussions in maxillary lateral incisors agenesis,Les répercussions craniofaciales dans l'agénésie des incisives latérales maxillaires". International Orthodontics 9 3 (2011): 274-285. http://www.scopus.com/inward/record.url?eid=2-s2.0-84856600353&partnerID=MN8TOARS.
    10.1016/j.ortho.2011.07.005
  20. Pinho, T.; MacIel, P.; Lemos, C.; Sousa, A.. "Familial aggregation of maxillary lateral incisor agenesis". Journal of Dental Research 89 6 (2010): 621-625. http://www.scopus.com/inward/record.url?eid=2-s2.0-77953261129&partnerID=MN8TOARS.
    10.1177/0022034510364486
  21. Sequeiros, J.; Ramos, E.M.; Cerqueira, J.; Costa, M.C.; Sousa, A.; Pinto-Basto, J.; Alonso, I.. "Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population". Clinical Genetics 78 4 (2010): 381-387. http://www.scopus.com/inward/record.url?eid=2-s2.0-77956413099&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2010.01388.x
  22. 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 Neurology 67 4 (2010): 422-427. http://www.scopus.com/inward/record.url?eid=2-s2.0-77950873164&partnerID=MN8TOARS.
    10.1001/archneurol.2010.37
  23. Lemos, C.; Mendonça, D.; Pereira-Monteiro, J.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A.. "BDNF and CGRP interaction: Implications in migraine susceptibility". Cephalalgia 30 11 (2010): 1375-1382. http://www.scopus.com/inward/record.url?eid=2-s2.0-79751474283&partnerID=MN8TOARS.
    10.1177/0333102410368443
  24. Do Amaral, B.; Coelho, T.; Sousa, A.; Guimarães, A.. "Usefulness of labial salivary gland biopsy in familial amyloid polyneuropathy Portuguese type". Amyloid 16 4 (2009): 232-238. http://www.scopus.com/inward/record.url?eid=2-s2.0-73349125776&partnerID=MN8TOARS.
    10.3109/13506120903421850
  25. Lemos, C.; Castro, M.-J.; Barros, J.; Sequeiros, J.; Pereira-Monteiro, J.; Mendonça, D.; Sousa, A.. "Familial clustering of migraine: Further evidence from a portuguese study". Headache 49 3 (2009): 404-411. http://www.scopus.com/inward/record.url?eid=2-s2.0-61349169629&partnerID=MN8TOARS.
    10.1111/j.1526-4610.2008.01177.x
  26. Paneque, M.; Lemos, C.; Sousa, A.; Velázquez, L.; Fleming, M.; Sequeiros, J.. "Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: Experience with the disease, kinship and gender of the transmitting parent". Journal of Genetic Counseling 18 5 (2009): 483-493. http://www.scopus.com/inward/record.url?eid=2-s2.0-70349664486&partnerID=MN8TOARS.
    10.1007/s10897-009-9240-1
  27. Ferro, A.; Castro, M.-J.; Lemos, C.; Santos, M.; Sousa, A.; Pereira-Monteiro, J.; Sequeiros, J.; Maciel, P.. "The C677T polymorphism in MTHFR is not associated with migraine in Portugal". Disease Markers 25 2 (2008): 107-113. http://www.scopus.com/inward/record.url?eid=2-s2.0-55449110399&partnerID=MN8TOARS.
  28. Paneque, M.; Lemos, C.; Escalona, K.; Prieto, L.; Reynaldo, R.; Velázquez, M.; Quevedo, J.; et al. "Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba". Journal of Genetic Counseling 16 4 (2007): 469-479. http://www.scopus.com/inward/record.url?eid=2-s2.0-34548163596&partnerID=MN8TOARS.
    10.1007/s10897-006-9083-y
  29. Costa, M.D.C.; Magalhães, P.; Guimarães, L.; Maciel, P.; Sequeiros, J.; Sousa, A.. "The CAG repeat at the Huntington disease gene in the Portuguese population: Insights into its dynamics and to the origin of the mutation". Journal of Human Genetics 51 3 (2006): 189-195. http://www.scopus.com/inward/record.url?eid=2-s2.0-33645229779&partnerID=MN8TOARS.
    10.1007/s10038-005-0343-8
  30. Sousa, A.. "Genetic epidemiology of familial amyloid polyneuropathy,Epidemiologia genética da polineuropatia amiloidótica familiar". Sinapse 6 1 SUPPL. 1 (2006): 74-79. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745360914&partnerID=MN8TOARS.
  31. Soares, M.L.; Coelho, T.; Sousa, A.; Batalov, S.; Conceição, I.; Sales-Luís, M.L.; Ritchie, M.D.; et al. "Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: Complexity in a single-gene disease". Human Molecular Genetics 14 4 (2005): 543-553. http://www.scopus.com/inward/record.url?eid=2-s2.0-14044275133&partnerID=MN8TOARS.
    10.1093/hmg/ddi051
  32. Lima, M.; Costa, M.C.; Montiel, R.; Ferro, A.; Santos, C.; Silva, C.; Bettencourt, C.; et al. "Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal". Human Heredity 60 3 (2005): 156-163. http://www.scopus.com/inward/record.url?eid=2-s2.0-31144472852&partnerID=MN8TOARS.
    10.1159/000090035
  33. Soares, M.L.; Coelho, T.; Sousa, A.; Holmgren, G.; Saraiva, M.J.; Kastner, D.L.; Buxbaum, J.N.. "Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: Genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden". European Journal of Human Genetics 12 3 (2004): 225-237. http://www.scopus.com/inward/record.url?eid=2-s2.0-14044249894&partnerID=MN8TOARS.
    10.1038/sj.ejhg.5201095
  34. Lobato, L.; Beirão, I.; Silva, M.; Fonseca, I.; Queirós, J.; Rocha, G.; Sarmento, A.M.; Sousa, A.; Sequeiros, J.. "End-stage renal disease and dialysis in hereditary amyloidosis TTR V30M: Presentation, survival and prognostic factors". Amyloid 11 1 (2004): 27-37. http://www.scopus.com/inward/record.url?eid=2-s2.0-2542488594&partnerID=MN8TOARS.
    10.1080/13506120410001673884
  35. Barreirinho, S.; Ferro, A.; Santos, M.; Costa, E.; Pinto-Basto, J.; Sousa, A.; Sequeiros, J.; et al. "Inherited and acquired risk factors and their combined effects in pediatric stroke". Pediatric Neurology 28 2 (2003): 134-138. http://www.scopus.com/inward/record.url?eid=2-s2.0-0345354675&partnerID=MN8TOARS.
    10.1016/S0887-8994(02)00506-4
  36. Lobato, L.; Beirão, I.; Silva, M.; Bravo, F.; Silvestre, F.; Guimarães, S.; Sousa, A.; Noël, L.-H.; Sequeiros, J.. "Familial ATTR amyloidosis: Microalbuminuria as a predictor of symptomatic disease and clinical nephropathy". Nephrology Dialysis Transplantation 18 3 (2003): 532-538. http://www.scopus.com/inward/record.url?eid=2-s2.0-0037338662&partnerID=MN8TOARS.
    10.1093/ndt/18.3.532
  37. do Carmo Costa, M.; Magalhães, P.; Ferreirinha, F.; Guimarães, L.; Januário, C.; Gaspar, I.; Loureiro, L.; et al. "Molecular diagnosis of Huntington disease in Portugal: Implications for genetic counselling and clinical practice". European Journal of Human Genetics 11 11 (2003): 872-878. http://www.scopus.com/inward/record.url?eid=2-s2.0-10744224655&partnerID=MN8TOARS.
    10.1038/sj.ejhg.5201055
  38. Soares, M.; Buxbaum, J.; Sirugo, G.; Coelho, T.; Sousa, A.; Kastner, D.; Saraiva, M.J.. "Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions". Human Genetics 104 6 (1999): 480-485. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032788532&partnerID=MN8TOARS.
    10.1007/s004390050991
  39. Maciel, P.; Caspar, C.; Guimarães, L.; Goto, J.; Lopes-Cendes, I.; Hayes, S.; Arvidsson, K.; et al. "Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)(n) tract". European Journal of Human Genetics 7 2 (1999): 147-156. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033058186&partnerID=MN8TOARS.
  40. Sousa, A.; Coelho, T.; Barros, J.; Sequeiros, J.. "Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (North of Portugal)". American Journal of Medical Genetics - Neuropsychiatric Genetics 60 6 (1995): 512-521. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029562263&partnerID=MN8TOARS.
    10.1002/ajmg.1320600606
  41. Coelho, T.; Sousa, A.; Lourenço, E.; Ramalheira, J.. "A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected". Journal of Medical Genetics 31 4 (1994): 293-299. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028281999&partnerID=MN8TOARS.
  42. Drugge, U.; Andersson, R.; Chizari, F.; Danielsson, M.; Holmgren, G.; Sandgren, O.; Sousa, A.. "Familial amyloidotic polyneuropathy in Sweden: A pedigree analysis". Journal of Medical Genetics 30 5 (1993): 388-392. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027241247&partnerID=MN8TOARS.
  43. Sousa, A.; Anderson, R.; Drugge, U.; Holmgren, G.; Sandgren, O.. "Familial amyloidotic polyneuropathy in Sweden: Geographical distribution, age of onset, and prevalence". Human Heredity 43 5 (1993): 288-294. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027275791&partnerID=MN8TOARS.
  44. Sandgren, O.; Drugge, U.; Holmgren, G.; Sousa, A.. "Vitreous involvement in familial amyloidotic neuropathy: a genealogical and genetic study". Clinical Genetics 40 6 (1991): 452-460. http://www.scopus.com/inward/record.url?eid=2-s2.0-0026411103&partnerID=MN8TOARS.
    10.1111/j.1399-0004.1991.tb03117.x
Thesis / Dissertation
  1. Sousa, Alda. "A variabilidade Fenotípica da Polineuropatia Amiloidótica Familiar: um estudo de genética quantitativa em Portugal e na Suécia". PhD, Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, 1995.
Activities

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2018 - Current Primary headaches: a whole genome and epigenome study
Co-supervisor of ANDREIA Sofia Ferreira DIAS
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2014 - 2019 Phenotypic Variability in Familial Amyloid Polyneuropathy: TTR modifiers in Caenorhabditis Elegans and Human Models
Co-supervisor of MIGUEL ALVES-FERREIRA
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2011 - 2019 Disease Modifying Therapies for ATTR Amyloidoses: Clinical Development of New Drugs and Impact on the Natural History of the Disease
Co-supervisor of Maria TERESA Pardal Monteiro COELHO:
Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2016 - 2017 Modulators of phenotypic variability in Familial Amyloid Polyneuropathy (FAP)
Co-supervisor
 MSc in Public Health (Master)
Universidade do Porto Faculdade de Medicina, Portugal
2012 - 2017 The role of genetic and epigenetic mechanisms as modifiers of age-at-onset (AO) in Familial Amyloid Polyneuropathy (FAP ATTRV30M)
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010 - 2015 Detection of gene-gene interactions in human diseases
Supervisor
 Programa Doutoral em Matemática Aplicada (PhD)
Universidade do Porto Faculdade de Ciências, Portugal
2011 - 2012 Migraine epidemiological study: neurogenic inflammation mechanisms .
Co-supervisor of SORAIA Raquel Machado Vaz OSÓRIO:
Mestrado em Saúde Pública (Master)
Universidade do Porto Faculdade de Medicina, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2011 - 2012 Role of X-linked genes in migraine susceptibility
Co-supervisor of MARLENE Sofia QUINTAS Pinho:
 Mestrado em Epidemiologia (Master)
Universidade do Porto Faculdade de Medicina, Portugal
2009 - 2010 Role of synaptic vesicles in migraine susceptibility
Supervisor of JOÃO Luis Aguiar Martins NETO
 Mestrado em Bioquímica (Master)
Universidade do Porto Faculdade de Ciências, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2009 - 2010 Frequência de associação entre cefaleias e perturbações auditivas
Supervisor of ANDREIA Cláudia Mendes RODRIGUES
 Mestrado em Saúde Pública (Master)
Universidade do Porto Faculdade de Medicina, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2004 - 2009 Genetic and epidemiological study of migraine
Supervisor of CAROLINA Luísa Cardoso LEMOS
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2003 - 2004 A polineuropatia amiloidótica familiar (PAF) em Portugal - um estudo genealógico e epidemiológico, usando a metodologia de reconstituição das paróquias
Supervisor of ANTÓNIO Rodrigues MORAIS
 História das Populações
Universidade do Minho, Portugal
1996 - 2004 Nephropathy in Portuguese- type Familial Amyloid Polyneuropathy
Co-supervisor of LUÍSA Maria Correia LOBATO:
 Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1998 - 1999 A exposição a solventes orgânicos na indústria do calçado e a fecundabilidade feminina
Co-supervisor of MARIA NETO de Miranda ARAÚJO:
Mestrado em Saúde Pública (Master)
Universidade do Porto Faculdade de Medicina, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Association member

Society Organization name Role
2009 - Current Community Genetics Network Member
2005 - Current Genetics, Medicine and History Network Member
1998 - Current European Society Human Genetics Member
1996 - Current Portuguese Society of Human Genetics (founding member) Founding member

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2009 - Current Population Dynamics Mestrado em Ciências do Mar e Recursos Marinhos (Mestrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2005 - Current Genetic Epidemiology MSc in Public Health Universidade do Porto Faculdade de Medicina, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2003 - Current Basic Genetics Master Degree in Medicine (Mestrado integrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2002 - Current Genetics BSc in Aquatic Sciences (Licenciatura) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2000 - 2018 Genetic Epidemiology Doctoral Program in Areas of Basic and Applied Biology (GABBA) (Doutoramento) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Faculdade de Medicina, Portugal

Universidade do Porto Faculdade de Ciências, Portugal
2008 - 2012 Topics in Statistical Genetics Programa Doutoral em Matemática Aplicada (Pós-Graduação) Universidade do Porto Faculdade de Ciências, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1985 - 2003 Population Biology Licenciatura em Medicina (Licenciatura) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Distinctions

Other distinction

2017 Award for best original publication
Sociedade Portuguesa de Genética Humana, Portugal
2015 First place - Poster
2012 1st place of Tecnifar Headache Award
2012 Best Poster presentation
2011 2nd place of Tecnifar Headache Award
2010 1st place of Tecnifar Headache Award
2009 2nd place of Tecnifar Headache Award
2007 Clinical Research Award (ex-aequo)
2002 Clinical Research Award