Rosário Santos, PhD

Integrated PhD researcher

orcid.org/0000-0002-8594-6377

Academic degrees:

PhD (U. Porto)

MSc (U. Porto)

MSc (U. Witwatersrand)

BSc Hons. (U. Witwatersrand)

Positions:

• Head, Molecular Genetics Unit, CGMJM, CHP 

Research interests:

• Study of hereditary monogenic disorders, focusing on X-linked Intellectual Disability, Neuromuscular disorders, some hematological and platelet dificits, infertility and rare dysmorphic syndromes.
• Collation and curation of genetic variants, in the framework of international databases and of the Human Variome Project.
• New technologies, as applied to molecular pre- and post-natal testing.

Research area keywords:

Genomics, Genome organization, Neuromuscular disorders, Intellectual disability, Hereditary amyloidosis

Selected publications:

1. Gonçalves, A.; Oliveira, J.; Coelho, T.; Taipa, R.; Melo-Pires, M.; Sousa, M.; Santos, R. Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene. Genes. 2017; 8(10):253. doi:10.3390/genes8100253
2. Koeks Z, Bladen CL, Salgado D, van Zwet E, (…Santos R, …), Lochmüller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017; 4(4):293–306. doi:10.3233/jnd-170280
3. Oliveira J, Martins M, Pinto Leite R, Sousa M, Santos R. The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. Clin Genet. 2017; 92(4):434-439. doi: 10.1111/cge.12997.
4. Maia N, Loureiro JR, Oliveira B, Marques I, Santos R, Jorge P, Martins S. Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? J Hum Genet. 2017; 62(2):269-275. doi: 10.1038/jhg.2016.122.
5. Oliveira J, Gonçalves A, Taipa R, Melo-Pires M, Oliveira ME, Costa JL, Machado JC, Medeiros E, Coelho T, Santos M, Santos R, Sousa M. New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. J Hum Genet. 2016; 61(6):497-505. doi: 10.1038/jhg.2016.2.

Ongoing projects:

CHP Grant: 336-13(196-DEFI/285-CES); CHP Grant Bolsa de Investigação DEFI 2013. Widening the Genetic Etiology of Primary Skeletal Muscle Diseases Using Next Generation Sequencing. PI: Jorge Oliveira; Rosário Santos 30%.

CHP Grant Bolsa de Investigação DEFI 2014 and Bolsa de Investigação DEFI 2015. Molecular causes of intellectual disability and developmental disorders. PI: Paula Jorge; Rosário Santos 15%.

Concluded projects:

FCT (PIC/IC/82897/2007). Clinical Implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction. PI Isabel Silveira; Rosário Santos 15%.

Mead-Johnson/CHP: 087/11(054-DEFI/083-CES). Determinantes genéticos de gastrite aguda autoimune e infecção por Helibacter pillory. PI Rosa Lima; Rosário Santos 30%.

FCT (PTDC/DTP-DES/0393/2012). Predisposição genética versus efeito do exercício físico regular nos níveis circulantes de adipocitoquinas em adolescentes obesos Portugueses. PI Luis Belo; Rosário Santos 30%.

Prizes, honors, awards:

2017- 2nd prize – Best Oral Communication – Annual Meeting of the Sociedade Portuguesa de Hematologia

2016- Runner-up prize - Oral Presentation – Annual Meeting of the Sociedade Portuguesa de Genética Humana

2016- Runner-up prize - Poster Presentation – IPP Biomedical Engineering Meeting

2015- 1st prize – Best Oral Presentation, Genetics Section – UMIB Summit 2015

2015- 1st prize (ex-aequo) – Best Oral Presentation – XLIV Conferências de Genética J. Magalhães, CHP

2014- 1st prize – Best Poster Presentation – 6as Jornadas de Iniciação à Investigação Clínica, ICBAS, UP

2014- 1st prize – Best Oral Presentation – Annual Meeting of the Sociedade Portuguesa de Gastrenterologia Pediátrica

2011- Elsevier Runner-up prize - Poster Presentation (P1.4) – Annual Meeting of the World Muscle Society

2011- Elsevier Runner-up prize - Poster Presentation (P2.56) – Annual Meeting of the World Muscle Society

2010- 3rd prize – Best Oral Presentation – CIBEME

2009- 1st prize – Best Oral Presentation – Annual Meeting of the SGHNP, Sociedade Portuguesa de Pediatria

2009- 1st prize – Best Oral Presentation – Annual Meeting of the APEF, Sociedade Portuguesa de Pediatria

2009- 1st prize – Best Oral Presentation, Clinical Investigation Section – Annual Meeting of the Sociedade Portuguesa de Genética Humana

2007- Orlando Leitão Prize – Best Publication on Clinical Cases - Sociedade Portuguesa de Neurologia

2007- 1st prize (ex aequo) – Best Oral Presentation, Clinical Investigation Section – Annual Meeting of the Sociedade Portuguesa de Genética Humana

2006- 1st prize – Best Oral Presentation– 55º Congresso da AEP, Asociación Española de Pediatría

2006- Jacinto de Magalhães prize – Best Scientific Publication - Instituto de Genética Médica J. Magalhães

2005- Corino de Andrade prize - Best Publication – Novartis/ Sociedade Portuguesa de Neurologia

2005- 1st prize – Best Oral Presentation – XLI Conferências de Genética

2000- 1st prize– Best Poster Presentation - XVII European Congress of Perinatal Medicine, European Association of Perinatal Medicine

1999- 1st prize – Best Oral Presentation – XI Reunião do Hospital Especializado de Crianças Maria Pia

1999- 1st prize – Best Oral Presentation – Annual Meeting of the Sociedade Portuguesa de Genética Humana / Life Tecnologies

International collaborations:

• TREAT-NMD (Global network), National DMD patient registry.
• Johann den Dunnen, LUMC, Characterization of genomic rearrangements using new technologies.
• Jerry Mendell, Ohio State University, Molecular Characterization of patients with Limb-girdle muscular dystrophy.
• Hanns Lochmüller, Ludwig-Maximilians University, Hereditary muscular dystrophies in patients of Gypsy Roma ethnicity.
• Collin Hill, (Asuragen Inc.) Texas, Test site for the evaluation and validation of a diagnostic reagent kit.

• José Alfredo Carvalho Cidade Rodrigues, MD. Doutoramento em Ciências Médicas, ICBAS-UP. Hipospádias: Epidemiologia, Etiopatogenia e Aspetos Clínicos. Conclusion: 2019.
• Jorge Manuel Santos Marques Oliveira, MSc. PhD in Biomedical Sciences, ICBAS-UP. Widening the Genetic Ethiology of Primary Skeletal Muscle Diseases using Next-generation sequencing. Conclusion: 2018.

Science and Society:

• President of the Sociedade Portuguesa de Genética Humana (SPGH) (http://spgh.net/a-spgh/)
• 1st Secretary of the General Assembly and member of the Scientific Committee, Sociedade Portuguesa de Estudos de Doenças Neuromusculares (SPEDNM) (http://www.spednm.com/paginas/a-spednm/)
• Member of the TREAT-NMD Global Database Oversight Committee (TGDOC) (http://www.treat-nmd.eu/about/governance/)
• Coordinator and Assessor of the international External Quality Assessment scheme for Duchenne Muscular Dystrophy, European Molecular Quality Network (EMQN) (https://www.emqn.org/about-emqn/)
• Curator of international variant databases for six genes (https://grenada.lumc.nl/LSDB_list/lsdbs/)