Paula Jorge, PhD

Principal Investigator

orcid.org/0000-0002-6507-222X

Academic degrees:

2001-PhD in Biomedical Sciences (Human Genetics)

1991-Biochemistry degree, elementary biochemistry specialization

Positions:

• Clinical laboratory Geneticist
  

Carreira dos técnicos superiores de saúde, desde 2002 assistente principal do ramo de Genética, Centro de Genética Médica Doutor Jacinto de Magalhães, CHP, E.P.E.

• Genetics teacher at the 1st year of the Bachelors of Science in Nursing at ESSSM (https://www.santamariasaude.pt/en)

Research interests:

• Identification of new syndromes and solving cases of rare genetic disorders with implications in the molecular diagnosis and improvement of the disease characterization
• Identify novel biomarkers involved in the female reproductive function;
• Develop and implement new diagnostic tests to screen for neurological and neurodevelopmental impairment disorders in Portuguese high risk populations.

Research area keywords:

Rare syndromes, Neurodevelopmental disorders, Female reproductive function, Molecular causes of genetic diseases, Medical technologies, Prenatal Genetic Diagnosis

Major Scientific Achievements:

• A definitive diagnosis of rare genetic conditions for an adequate clinical follow-up and accurate genetic counseling of at-risk family members
• Development and validation of a multiplex-PCR assay for X-linked intellectual disability
• A method for selecting oocyte donor candidates based on FMR1 gene AGG interspersion pattern

Selected publications:

1. Maia N, Nabais Sá MJ, Tkachenko N, Soares G, Marques I, Rodrigues B, Fortuna AM, Santos R, de Brouwer APM, Jorge P. Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome. Molecular Syndromology 2017 in press.
2. 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 Feb;62(2):269-275. doi: 10.1038/jhg.2016.122. Epub 2016 Oct 27. PubMed PMID: 27784894.
3. Bougacha-Elleuch N, Charfi N, Miled N, Bouhajja H, Belguith N, Mnif M, Jorge P, Chikhrouhou N, Ayadi H, Hachicha M. Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect. European journal of pediatrics 2015;174(12):1703.
4. Marques I, Sá MJ, Soares G, Mota M do C, Pinheiro C, Aguiar L, Amado M, Soares C, Calado A, Dias P, Sousa AB, Fortuna AM, Santos R, Howell KB, Ryan MM, Leventer RJ, Sachdev R, Catford R, Friend K, Mattiske TR, Shoubridge C, Jorge P. Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. Mol Genet Genomic Med. 2015 May;3(3):203-14. doi: 10.1002/mgg3.133. Epub 2015 Feb 25. PubMed PMID: 26029707; PubMed Central PMCID: PMC4444162.
5. Jorge P, Oliveira B, Marques I, Santos R. Development and validation of a multiplex-PCR assay for X-linked intellectual disability. BMC medical genetics 2013;14(1):1.

Ongoing projects:

Bolsa de Investigação CHP, E.P.E., Projecto de Investigação 145/12(114-DEFI/ 105-CES): “INTELLECTUAL DISABILITIES EXPLOITATION IN HIGH-THROUGHPUT ANALYSES”; PI Paula Jorge

Projeto de Investigação 241/13 (154-DEFI/ 193-CES) “GENETIC VARIANTS DISCOVERY IN LUJAN-FRYNS AND OPITZ-KAVEGGIA SYNDROMES”; PI Isabel Marques

Concluded projects:

FCT, PIC/IC/82897/2007. Implicações clínicas dos factores genéticos envolvidos em doenças neurodegenerativas caracterizadas por alterações do movimento ou cognitivas. PI: Isabel Alexandra Azevedo Silveira, i3S. Investigador: Paula Jorge 15%

Ministério da Saúde, Comissão de Fomento para a investigação em Saúde, Projecto n.º 163/99. Molecular characterisation of hTPO gene in a cohort of congenital hypothyroidism patients diagnosed in the Portuguese Newborn Screening Programme. PI: Pires Soares, Instituto de Genética Médica Doutor Jacinto Magalhães. Investigador: Paula Jorge 15%

039-DEFI/ 057-CES, Estudo de Investigação 2014.058, “Avaliação do Impacto da Síndrome do X-Frágil em Doentes e Cuidadores", PI Paula Jorge

Prizes, honors, awards:

2016- Menção Honrosa, Melhor Apresentação Científica, Sociedade Portuguesa de Genética Humana

2010- 3º Prémio Melhor Apresentação Científica (Bárbara Oliveira) CIBEME

2006- Prémio Jacinto Magalhães “Melhor artigo científico”, Mutation screening of the Thyroid Peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism

2005- Prémio “melhor comunicação oral”, XLI Conferências de Genética, Biblioteca Almeida Garret, Porto

1995- Prémio para participação no congresso, NIH Award,2nd Joint Clinical Genetics Meeting

1993- Prémio “melhor artigo IGMJM”, KABI-PHARMACIA AWARD,Characterization of X-linked Adrenoleukodystrophy in Different Biological Specimens from ten Portuguese families

1993- Prémio “melhor comunicação oral”, NOVO NORDISK AWARD (co-autoria), Etiologic studies of Addison’s disease

1992- Prémio para participação no congresso SSIEM,Society for the Study of Inborn Errors of Metabolism

International collaborations:

• Arjan de Brouwer, Ph.D., Genomic Disorders, Radboud University Nijmegen, Intellectual disability and neurodevelopmental disorders/identification of novel genes
• Noura Bougacha, Department of Life Sciences, Sfax University, Analysis of TPO gene
• Cheryl Shoubridge, Ph.D., Department of Paediatrics, University of Adelaide Adelaide, Australia, Unraveling the pathogenesis of ARX gene polyalanine tract variants

• Nuno Miguel da Silva Maia, Doutoramento em Ciências Biomédicas,  Molecular causes of intellectual disability and developmental disorders,  2019

MSc thesis supervision (concluded):

• Bárbara Luísa Cerqueira Rodrigues, The impact of the FMR1 gene AGG interspersions in the female reproduction function, Departamento de Biologia, Universidade de Aveiro, 2017
• Bárbara André de Sousa Oliveira, Molecular assessment of X-Linked Intellectual Disability: a gene cluster based approach, Instituto Politécnico de Saúde do Norte – CESPU, 2011
• Joana Maria Geraldes da Rocha Loureiro, Síndrome de X-frágil em Portugal: Caracterização molecular por SNPs e STRs, Departamento de Biologia Vegetal, Faculdade de Ciências, Universidade de Lisboa, 2010
• Sílvia Tadeu dos Anjos Pires, Avaliação estatística de microssatélites para o estudo de zigotia, Departamento de Biologia, Universidade de Aveiro, 2006

Science and Society:

• Associação Portuguesa da Síndrome de X-Frágil, APSXF (http://www.apsxf.org/page.php?id_p=20&id_sp=27)
• The Clinical Laboratory Genetics Specialist profession working Group at SPGH (http://spgh.net/a-spgh/cgcl/)

Patents:

Pending

• FMR1 gene AGG interspersion pattern as a fertility determinant