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Identification

Personal identification

Full name
OLGA ALCINA MARTINS DE OLIVEIRA AMARAL

Citation names

  • Amaral, Olga

Author identifiers

Ciência ID
6F1F-54A3-BBB9
ORCID iD
0000-0002-3478-2122
Researcher Id
https://www.researchgate.net/profile/Olga-Amaral-2
Scopus Author Id
7004054964

Email addresses

  • olga.amaral@insa.min-saude.pt (Professional)

Knowledge fields

  • Medical and Health Sciences - Medical Biotechnology - Technologies Involving the Manipulation of Cells, Tissues, Organs or the Whole Organism

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2)
French Advanced (C1) Proficiency (C2) Advanced (C1) Proficiency (C2) Advanced (C1)
Education
Degree Classification
2001/03/19
Concluded
 Ciências Biomédicas (Doutoramento)
Major in Outra:Genética
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Gaucher Disease: Studies on Two Associated Genes" (THESIS/DISSERTATION)
 unanimous honours
Projects

Contract

Designation Funders
2016/05 - 2020/01/31 Cellular models for the study of lysosomal dysfunction and correction mechanisms; PTDC/BIM-MEC/4762/2014; PI: Olga Amaral
PTDC/BIM-MEC/4762/2014
Principal investigator
Instituto Nacional de Saúde Doutor Ricardo Jorge - CSPGF, Porto, Portugal
 Secretaria de Estado de Ciência Tecnologia e Ensino Superior
Concluded
2009/06 - 2014/02 Prognosis and prevention in a few inherited diseases existing in the Portuguese population (2009-2012) Financing: FCT (PIC/IC/82822/2007) PI : Olga Amaral (CGMJM/INSA-Porto)
PIC/IC/82822/2007
Principal investigator
Instituto Nacional de Saúde Doutor Ricardo Jorge - CSPGF, Porto, Portugal
 Fundacao para a Ciencia e a Tecnologia (MECT)
Concluded
1996 - 1998 Gaucher disease: Study of the two genes involved (FCT Project and PhD Grant; PECS/T/SAU/88/95)
PECS/T/SAU/88/95 & BD/5547/95
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 ex- JNICT/ now FCT
Concluded
Outputs

Publications

Book chapter
  1. Amaral, Olga; Duarte, Ana Joana; Diogo Ribeiro; Renato Santos; José Bragança. "Applications of iPSCs in Gaucher Disease and other rare sphingolipidoses". In Advances in Stem Cell Biology, iPSCs - State of the Science, 197-224. Netherlands: Elsevier, 2022.
    Published • 10.1016/B978-0-323-85767-3.00001-3
Conference abstract
  1. Amaral, Olga. "Models of Lysosomal Storage Diseases, Olga Amaral, Ana Duarte; #eshg2023 Control Number: 1698. Topic: 16. New Technologies and Approaches.". Paper presented in ESHG, 2023.
    Published
  2. Amaral, Olga; Diogo Ribeiro; Ana Joana Duarte. Corresponding author: Amaral, Olga. "Proceedings of the 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana)". Paper presented in 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH ¿ Sociedade Portuguesa de Genética Humana), 2021.
  3. Amaral, Olga; Filipa Margarida Barroso Ferreira. "Proceedings- GENETICS AS PART OF HEALTH SCIENCE EDUCATION: REFLECTING ON A CHANGING APPROACH". Paper presented in 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana), virtual, 2021.
    Published
  4. Amaral, Olga; Ribeiro, Diogo; Duarte, Ana Joana. "Proceedings- A FIRST STEP TO OPEN THE NEURONAL BOX OF GAUCHER DISEASE: NEURAL PROGENITOR CELLS". Paper presented in 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana), virtual, 2021.
    Published
Conference paper
  1. Amaral, Olga; Dias, Aureliano; Pinto, Eugénia; Ribeiro, Isaura; Sá Miranda, M.C.; Olga Amaral; Aureliano Dias; Eugenia Pinto; Isaura Ribeiro; MC Sa Miranda;. "Arylsulfatase B mutations in Portuguese MPS VI patients". 2004.
    10.13140/2.1.3071.0727
  2. Amaral, Olga. "Molecular characterization of type 1 Gaucher patients and their families". 1993.
    10.1136/jmg.31.5.401#sthash.r9HULFet.dpuf
Conference poster
  1. Amaral, Olga. "Gene Editing in Fabry Disease: A Strategy Delineation BY Ana Joana Duarte, Luciana Moreira, Diogo Ribeiro, Olga Amaral.". Paper presented in SPGH 2022, 2022.
  2. Diogo Ribeiro; Encarnação, M.; Silva, L; Alves, S; Amaral, Olga. Corresponding author: Amaral, Olga. "PRELIMINARY CHARACTERIZATION OF LYSOSOMAL-RELATED GENES IN TWO TAY SACHS VARIANT B1 FIBROBLAST CELL LINES". Paper presented in 25ª Reunião Anual da SPGH, 18 e 19 de Novembro de 2021 (Virtual), 2021.
Journal article
  1. Amaral, Olga; Martins, Mariana; Oliveira, Ana Rita; Duarte, Ana Joana; Mondragão-Rodrigues, Inês; Macedo, M. Fatima. "The Biology of Lysosomes: From Order to Disorder". (2023): http://hdl.handle.net/10400.18/8656.
    10.3390/biomedicines11010213
  2. Wong RC; Huang J; Li D; Amaral O. "Editorial: Somatic Cell Gene Editing for Treating Diseases.". Frontiers in cell and developmental biology (2021): http://europepmc.org/abstract/med/35004705.
    10.3389/fcell.2021.828195
  3. Duarte, Ana Joana; Ribeiro, Diogo; Santos, Renato; Moreira, Luciana; Bragança, José; Amaral, Olga. "Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation". Stem Cell Research (2020): 101794. http://dx.doi.org/10.1016/j.scr.2020.101794.
    Open access • In press • 10.1016/j.scr.2020.101794
  4. Amaral, Olga. "Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy". International Journal of Molecular Sciences (2019): http://dx.doi.org/10.3390/ijms20235897.
    10.3390/ijms20235897
  5. Quint, Meghan; Amaral, Olga. "Lessons from Ciência Viva: how teaching human genetics to XXIst century students must go beyond the classroom". European Journal of Human Genetics 28 5 (2019): 533-534. http://dx.doi.org/10.1038/s41431-019-0541-z.
    10.1038/s41431-019-0541-z
  6. Labrijn-Marks, I.; Somers-Bolman, G.M.; In ’t Groen, S.L.M.; Hoogeveen-Westerveld, M.; Kroos, M.A.; Ala-Mello, S.; Amaral, O.; et al. "Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays". European Journal of Human Genetics (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85061283350&partnerID=MN8TOARS.
    10.1038/s41431-019-0348-y
  7. Duarte, A.J.; Ribeiro, D.; Santos, R.; Moreira, L.; Bragança, J.; Amaral, O.. "Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene". Stem Cell Research 41 (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85074195591&partnerID=MN8TOARS.
    10.1016/j.scr.2019.101595
  8. Matos L; Duarte AJ; Ribeiro D; Chaves J; Amaral O; Alves S. "Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy.". Genes (2018): http://europepmc.org/abstract/med/30208654.
    10.3390/genes9090455
  9. Duarte, A.J.; Ribeiro, D.; Moreira, L.; Amaral, O.. "In silico analysis of missense mutations as a first step in functional studies: Examples from two sphingolipidoses". International Journal of Molecular Sciences 19 11 (2018): http://www.scopus.com/inward/record.url?eid=2-s2.0-85055909509&partnerID=MN8TOARS.
    10.3390/ijms19113409
  10. Amaral, Olga. "Characterization of a rare Unverricht-Lundborg disease mutation.". Molecular genetics and metabolism reports (2015): http://europepmc.org/abstract/med/26937413.
    10.1016/j.ymgmr.2015.07.005
  11. Cherif W; Ben Turkia H; Ben Rhouma F; Riahi I; Chemli J; Amaral O; Sá Miranda MC; et al. "[Molecular diagnosis of Gaucher disease in Tunisia].". (2013): http://europepmc.org/abstract/med/22542428.
    10.1016/j.patbio.2012.03.006
  12. Diogo Ribeiro; Ana Cardoso; Ana Joana Duarte; Luis Vieira; Olga Amaral; Ribeiro, Diogo; Cardoso, Ana; et al. "Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples". ISRN Molecular Biology 2013 (2013): 1-4. http://dx.doi.org/10.1155/2013/451298.
    10.1155/2013/451298
  13. Ana Duarte; Diogo Ribeiro; Olga Amaral. "Genetic Variation in a Common Biomarker Encoded By CHIT1". Molecular Genetics and Metabolism 105 2 (2012): S27-S27. http://dx.doi.org/10.1016/j.ymgme.2011.11.049.
    10.1016/j.ymgme.2011.11.049
  14. Olga Amaral; Ana Duarte; Eugenia Pinto; Isaura Ribeiro; Diogo Ribeiro; Joel Freitas; Joao Chaves. "Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy". Molecular Genetics and Metabolism 105 2 (2012): S17-S17. http://dx.doi.org/10.1016/j.ymgme.2011.11.017.
    10.1016/j.ymgme.2011.11.017
  15. Pinto, E.; Freitas, J.; Duarte, A.J.; Ribeiro, I.; Ribeiro, D.; Lima, J.L.; Chaves, J.; Amaral, O.. "Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene". Epilepsy Research 99 1-2 (2012): 187-190. http://www.scopus.com/inward/record.url?eid=2-s2.0-84857921932&partnerID=MN8TOARS.
    10.1016/j.eplepsyres.2011.11.004
  16. Cherif, W.; Ben Turkia, H.; Tebib, N.; Amaral, O.; Ben Rhouma, F.; Abdelmoula, M.S.; Azzouz, H.; et al. "Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous,Spectre mutationnel de la maladie de Gaucher en Tunisie: forte fréquence des hétérozygotes composites N370S/Rec NciI.". Archives de l'Institut Pasteur de Tunis 84 1-4 (2007): 65-70. http://www.scopus.com/inward/record.url?eid=2-s2.0-65549170086&partnerID=MN8TOARS.
  17. Pinto R; Caseiro C; Lemos M; Lopes L; Fontes A; Ribeiro H; Pinto E; et al. "Prevalence of lysosomal storage diseases in Portugal.". (2004): http://europepmc.org/abstract/med/14685153.
    10.1038/sj.ejhg.5201044
  18. Rodrigues MR; Sá Miranda MC; Amaral O. "Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.". (2004): http://europepmc.org/abstract/med/15528158.
    10.1016/j.bcmd.2004.07.005
  19. Marcão A; Pinto E; Rocha S; Sá Miranda MC; Ferreira L; Amaral O; Ana Marcão; et al. "ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis.". Molecular Genetics and Metabolism 79 4 (2003): 305-307. http://europepmc.org/abstract/med/12948748.
    10.1016/S1096-7192(03)00092-1
  20. Guimarães J; Amaral O; Sá Miranda MC; Guimarães, J.; Amaral, O.; Sá Miranda, M.C.. "Adult-onset neuronopathic form of Gaucher's disease: a case report.". Parkinsonism and Related Disorders 9 5 (2003): 261-264. http://europepmc.org/abstract/med/12781591.
    10.1016/S1353-8020(02)00096-2
  21. Diaz GA; Gelb BD; Risch N; Nygaard TG; Frisch A; Cohen IJ; Miranda CS; et al. "Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.". (2000): http://europepmc.org/abstract/med/10777718.
    10.1086/302946
  22. Amaral, O.; Marcão, A.; Sá Miranda, M.C.; Desnick, R.J.; Grace, M.E.. "Gaucher disease: Expression and characterization of mild and severe acid ß-glucosidase mutations in Portuguese type 1 patients". European Journal of Human Genetics 8 2 (2000): 95-102. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034103259&partnerID=MN8TOARS.
    10.1038/sj.ejhg.5200422
  23. Lacerda L; Arosa FA; Lacerda R; Cabeda J; Porto G; Amaral O; Fortuna A; et al. "T cell numbers relate to bone involvement in Gaucher disease.". (1999): http://europepmc.org/abstract/med/10389595.
    10.1006/bcmd.1999.0237
  24. Amaral, O.; Lacerda, L.; Marcao, A.; Pinto, E.; Tamagnini, G.; Sa Miranda, M.C.. "Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin". Clinical Genetics 56 1 (1999): 100-102. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032840829&partnerID=MN8TOARS.
    10.1034/j.1399-0004.1999.560117.x
  25. Diaz, G.A.; Gelb, B.D.; Risch, N.; Nygaard, T.; Maire, I.; Poenaru, L.; Caillaud, C.; et al. "Linkage disequilibrium analysis of the gaucher disease N370S mutation". Journal of Investigative Medicine 47 2 (1999): http://www.scopus.com/inward/record.url?eid=2-s2.0-33750123586&partnerID=MN8TOARS.
  26. Marcão, A.; Amaral, O.; Pinto, E.; Pinto, R.; Sá Miranda, M.C.. "Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.". Human mutation 13 4 (1999): 337-338. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032611771&partnerID=MN8TOARS.
  27. Amaral, O.; Marcão, A.; Pinto, E.; Zimran, A.; Miranda, M.C.S.. "Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation". Blood Cells, Molecules and Diseases 23 3 (1997): 415-416. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031427004&partnerID=MN8TOARS.
    10.1006/bcmd.1997.0159
  28. Amaral, O.; Pinto, E.; Fortuna, M.; Lacerda, L.; Miranda, M.C.S.; Olga Amaral; Eugénia Pinto; et al. "Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese". Human Mutation 8 3 (1996): 280-281. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029818687&partnerID=MN8TOARS.
    10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z
  29. Amaral, Olga. "Leucodistrofia Metacromática em Portugal: Estudos Moleculares de 9 famílias". Arquivos de Medicina (Portugal) (1995): http://arquivosdemedicina.org/arquivosdemedicina/.
  30. Amaral O; Fortuna AM; Lacerda L; Pinto R; Sa Miranda MC; Amaral, O.; Fortuna, A.M.; et al. "Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.". Journal of Medical Genetics 31 5 (1994): 401-404. http://europepmc.org/abstract/med/8064820.
    10.1136/jmg.31.5.401
  31. Lacerda, L.; Amaral, O.; Pinto, R.; Oliveira, P.; Aerts, J.; Sa Miranda, M.C.; Lacerda L; et al. "Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population". Clinical Genetics 45 6 (1994): 298-300. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028306746&partnerID=MN8TOARS.
  32. Lacerda L; Amaral O; Pinto R; Aerts J; Sá Miranda MC. "The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism.". (1994): http://europepmc.org/abstract/med/8051940.
    10.1007/BF00735401
  33. Lacerda L; Amaral O; Pinto R; Aerts J; Sá Miranda MC. "Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis.". (1993): http://europepmc.org/abstract/med/8260196.
    10.1006/bmmb.1993.1061
  34. Amaral, O.; Lacerda, L.; Santos, R.; Pinto, R.A.; Aerts, H.; Miranda, M.C.S.. "Type 1 Gaucher Disease: Molecular, Biochemical, and Clinical Characterization of Patients from Northern Portugal". Biochemical Medicine and Metabolic Biology 49 1 (1993): 97-107. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027240909&partnerID=MN8TOARS.
    10.1006/bmmb.1993.1011
  35. Amaral, Olga. "Gaucher Disease Type I: Molecular and Biochemical Studies in 14 Portuguese Patients". AJHG (1991):
Activities

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2010 - 2012/04 Supervisor of MSc UMinho. Estudo da mutação W402X : frequência desta variante da a-L-iduronidase lisossomal na população portuguesa e análise da sua função. Molecular and cell biology lab work supervision and thesis preparation.
Supervisor
 Ciências da Saúde (Master)
Universidade do Minho Escola de Ciências, Portugal
2009 - 2010/12 Supervisor of MSc degree UAveiro "Molecular Study of EPM1" Eugénia Pinto, at U.Aveiro, principal orientation in the project "Molecular Study of EPM1", December 2010, Master degree concluded with 19/20. Supervision including laboratory work, final dissertation and manuscript publication
Supervisor
 Biologia Molecular e Celular (Master)
Universidade de Aveiro, Portugal
2006 - 2009/01 Supervisor of Isaura Ribeiro, at ICBAS (FC-UP), co-orientation in Estudo bioquímico, molecular e patofisiológico da doença de Farber, Master degree concluded in January 2009, http://catalogo.bnportugal.pt/ipac20/ipac.jsp?session=1R1MS65801546.189553&profile=bn&uri=link=3100018~!1437315~!3100024~!3100022& aspect=basic_search&menu=search&ri=1&source=~!bnp&term=Ribeiro%2C+Isaura+Manuela+ Duarte&index=AUTHOR
Co-supervisor
 Bioquímica (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2003 - 2005 Supervisor- Especialização. Study of micro-rearrangements in the glucocerebrosidade and alpha-galactosidase genes. Supervision of specialization certification in the area of Human Genetics and molecular biology. Lab supervision, thesis supervision, manuscript publication and work presentation at specialized meetings
Supervisor
 genética humana (Specialization course)
Ministério da Saúde, Portugal
2002 - 2004 Supervisor- Especialização. Molecular characterization of mucopolysaccharidosis (mucopolisacaridoses type VI) Supervision of specialization certification in the area of Human Genetics and molecular biology. Lab supervision, thesis supervision and work presentation at specialized meetings
Supervisor
 genetica humana (Specialization course)
Ministério da Saúde, Portugal