Josianne Nunes-Carriço (F418-B572-BFE2) | CIÊNCIAVITAE

Curriculum Vitae

Josianne Nunes-Carriço

Identification

Personal identification

Full name: Josianne Nunes-Carriço

Author identifiers

Ciência ID: F418-B572-BFE2

Education

	Degree	Classification
2020/09/01 - 2024/09/01 Ongoing	Biomedicina (Doutoramento) Universidade da Beira Interior, Portugal
2008/09 - 2010/07/08 Concluded	Biochemistry (Master) Major in Biochemistry applied to the industrial environment Université de Montréal Faculté de médecine, Canada	3,815 (converted to 18)
2000/09 - 2005/08/25 Concluded	Anatomical Pathology, Cytology and Thanatology (Licenciatura) Major in Cytopathology; Histotechnology; Clinical and Forensic Thanatology; Immunohistochemical and Molecular Pathology Technologies; Electronic Microscopy Instituto Politécnico de Lisboa Escola Superior de Tecnologia da Saúde de Lisboa, Portugal	16

Affiliation

Science

	Category Host institution	Employer
2019/02/01 - Current	Researcher (Research)	Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
	Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2010/09/01 - 2017/08/31	Research Assistant (Research)	Centre de recherche du CHU Sainte-Justine, Canada
	Centre de recherche du CHU Sainte-Justine, Canada
2010/01/06 - 2010/04/23	Research Trainee (Research)	Viscogliosi Molecular Genetics Laboratory of Musculoskeletal Disorders of the CHU Sainte-Justine Research Centre, Canada
	Centre de recherche du CHU Sainte-Justine, Canada
2008/04/01 - 2008/07/31	Research Trainee (Research)	Universite de Montreal Departement de biochimie et medecine moleculaire, Canada
	Universite de Montreal Departement de biochimie et medecine moleculaire, Canada

Other Careers

	Category Host institution	Employer
2006/05/02 - 2008/01/01	Técnico de 2ª Classe (Técnico de Diagnóstico e Terapêutica - Técnico de Anatomia Patológica, Citológica e Tanatológica)	Centro Hospitalar Cova da Beira EPE, Portugal
	Centro Hospitalar Cova da Beira EPE, Portugal

Projects

Grant

	Designation	Funders
2020/11/01 - 2024/11/01	Identification of genetic causes of congenital hypogonadotropic hypogonadism using next-generation sequencing. 2020.04924.BD PhD Student Fellow Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2020/01/02 - 2020/10/31	ICON-Interdisciplinary Challenges On Neurodegeneration - Identification of genetic biomarkers for the neurodegeneration of hypothalamic GnRH secreting neurons. CENTRO-01-0145-FEDER-000013 Research Fellow Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal	Programa Operacional Regional do Centro 2014-2020 (Centro2020), Portugal Ongoing
2019/02/01 - 2019/12/31	GenoPit - Genetic risk factors for pituitary adenomas: a national, multicenter, genetic and clinical analysis. POCI-01-0145-FEDER-029489 Research Fellow Universidade da Beira Interior Faculdade de Ciências da Saúde, Portugal	Fundação para a Ciência e a Tecnologia Concluded

Outputs

Publications

Conference abstract	Choudhury, Mayukh; Carrico, Josianne Nunes; Berryer, Martin; Di Cristo, Graziella. "Role of mTOR pathway in GABAergic maturation in the mouse neocortex". Paper presented in International Society for Developmental Neuroscience (ISDN), Montréal, 2015. Published • 10.1016/j.ijdevneu.2015.04.124 • Assistant staff
Conference poster	Carriço, Josianne-Nunes; Gonçalves, Catarina; José Maria Aragüés; Lemos, Manuel Carlos. "PD62 - Kallmann Syndrome: Functional analysis of a CHD7 missense variant shows aberrant RNA splicing". Paper presented in Portuguese Congress of Endocrinology 2025 - 76th annual meeting of the Portuguese Society of Endocrinology, Diabetes and Metabolism, 2025. Nunes-Carriço, Josianne; Gonçalves, Catarina; Saraiva, Luís R.; Lemos, Manuel C. "P01.020.D - Genetics of congenital hypogonadotropic hypogonadism in the portuguese population.". Paper presented in European Human Genetics Conference 2023, Glasgow, Scotland, UK., 2023. Nunes-Carriço, Josianne; Gonçalves, C.I.; Syed, Najeeb; Saraiva, L R; Lemos, Manuel C. Corresponding author: Nunes-Carriço, Josianne. "Genetics of congenital hypogonadotropic hypogonadism in the Portuguese population". Paper presented in European Human Genetics Conference Glasgow, Scotland, UK, 2023. Gendron, Karine; Carriço, Josianne; Dulude, Dominic; Heveker, Nikolaus; Léa Brakier-Gingras. "The Internal Ribosome Entry Site (IRES) Present in the 5'UTR of the full-length mRNA of HIV-1 Group M subtype B is functional in cultured cells and conserved among Group M subtypes A and C". Paper presented in The annual Conference on Retroviruses and Opportunistic Infections (CROI), 2009. Gendron, Karine; Nunes-Carriço, Josianne (F418-B572-BFE2); Dulude, Dominic; Heveker, Nikolaus; Brakier-Gingras, Léa. "Does the human immunodeficiency virus type 1 (HIV-1) use an internal ribosome entry site to translate its structural and enzymatic proteins?". Paper presented in RiboClub Annual Meeting, 2008.
Journal article	Josianne Nunes Carriço; Catarina Inês Gonçalves; José Maria Aragüés; Manuel Carlos Lemos. "Kallmann Syndrome: Functional Analysis of a CHD7 Missense Variant Shows Aberrant RNA Splicing". International Journal of Molecular Sciences (2024): https://doi.org/10.3390/ijms252212061. 10.3390/ijms252212061 Josianne Nunes Carriço; Catarina Inês Gonçalves; Asma Al-Naama; Najeeb Syed; José Maria Aragüés; Margarida Bastos; Fernando Fonseca; et al. "Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort". Human Reproduction Open (2024): http://dx.doi.org/10.1093/hropen/hoae053. 10.1093/hropen/hoae053 Catarina I. Gonçalves; Josianne N. Carriço; Omneya M. Omar; Ebtesam Abdalla; Manuel C. Lemos. "Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site". Frontiers in Endocrinology 14 (2023): http://dx.doi.org/10.3389/fendo.2023.1207425. 10.3389/fendo.2023.1207425 Catarina I. Gonçalves; Josianne Carriço; Margarida Bastos; Manuel C. Lemos. "Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients". International Journal of Molecular Sciences (2022): https://doi.org/10.3390/ijms231710026. 10.3390/ijms231710026 Clara A. Amegandjin; Mayukh Choudhury; Vidya Jadhav; Josianne Nunes Carriço; Ariane Quintal; Martin Berryer; Marina Snapyan; et al. "Sensitive period for rescuing parvalbumin interneurons connectivity and social behavior deficits caused by TSC1 loss". Nature Communications 12 1 (2021): https://doi.org/10.1038/s41467-021-23939-7. 10.1038/s41467-021-23939-7 Munguba, Hermany; Chattopadhyaya, Bidisha; Nilsson, Stephan; Nunes-Carriço, Josianne; Memic, Fatima; Oberst, Polina; Batista-Brito, Renata; et al. "Postnatal Sox6 Regulates Synaptic Function of Cortical Parvalbumin-Expressing Neurons". The Journal of Neuroscience 41 43 (2021): 8876-8886. http://dx.doi.org/10.1523/jneurosci.0021-21.2021. 10.1523/jneurosci.0021-21.2021 Awad, Patricia Nora; Amegandjin, Clara Akofa; Szczurkowska, Joanna; Carriço, Josianne Nuñes; Fernandes do Nascimento, Antônia Samia; Baho, Elie; Chattopadhyaya, Bidisha; et al. "KCC2 Regulates Dendritic Spine Formation in a Brain-Region Specific and BDNF Dependent Manner". Cerebral Cortex 28 11 (2018): 4049-4062. http://dx.doi.org/10.1093/cercor/bhy198. Published • 10.1093/cercor/bhy198 • Assistant staff Awad, Patricia N.; Sanon, Nathalie T.; Chattopadhyaya, Bidisha; Carriço, Josianne Nunes; Ouardouz, Mohamed; Gagné, Jonathan; Duss, Sandra; et al. "Reducing premature KCC2 expression rescues seizure susceptibility and spine morphology in atypical febrile seizures". Neurobiology of Disease 91 (2016): 10-20. http://dx.doi.org/10.1016/j.nbd.2016.02.014. Published • 10.1016/j.nbd.2016.02.014 • Assistant staff
Magazine article	Carriço, Josianne; Bento, Ana; Ferro, Amadeu; Quintino, Fernanda; Viegas, Carla; Albuquerque, Paula; Viegas, Susana. "Exposição ao Xilol nos laboratórios de Anatomia Patológica", Revista Segurança, 2006
Online resource	Mayukh Choudhury; Clara A. Amegandjin; Vidya Jadhav; Nunes-Carriço, Josianne; Ariane Quintal; Martin Berryer; Marina Snapyan; et al. Inhibition of mTOR during a postnatal sensitive window rescues deficits in GABAergic PV cell connectivity and social behavior caused by loss of TSC1.. 2020. https://doi.org/10.1101/2020.03.29.014563.

Activities

Oral presentation

	Presentation title	Event name Host (Event location)
2025/03/27	Identification of the genetic causes of congenital hypogonadotropic hypogonadism using next-generation sequencing	PhD’S talks RISE-HEALTH,UBI RISE-HEALTH UBI (Covilhã, Portugal)
2023/07/10	GENETICS OF CONGENITAL HYPOGONADOTROPIC HYPOGONADISM IN THE PORTUGUESE POPULATION	XVIII International CICS-UBI Symposium Health Sciences Research Centre (CICS-UBI) (Covilhã, Portugal)
2010/04/23	Signalisation des protéines G inhibitrices dans les lymphocytes B immortalisés provenants des patients atteints de la scoliose idiopatique de l’adolescent	Presentation of internship results to jury. Responsible of evaluation : Dr. Jurgen Sygusch. Université de Montréal; (Montréal, Canada)

Event organisation

	Event name Type of event (Role)	Institution / Organization
2014/09 - 2014/09	Journée portes ouvertes du CHU Sainte-Justine, is a annual event which offers guided visits to certain care units, meeting with managers, professionals and employees in the sectors and general information on major projects at CHU Sainte-Justine. (2014/09 - 2014/09) Exhibition (Co-organisor)	Centre de recherche du CHU Sainte-Justine, Canada

Event participation

	Activity description Type of event	Event name Institution / Organization
2025/01/30 - 2025/02/02	Portuguese Congress of Endocrinology 2025 - 76th annual meeting of the Portuguese Society of Endocrinology, Diabetes and Metabolism Conference	Congresso Português de Endocrinologia 2025 - 76ª Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2024/07/16 - 2024/07/17	XIX Annual CICS-UBI Symposium Symposium	XIX Annual CICS-UBI Symposium Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2024/06/01 - 2024/06/04	The annual ESHG conference is the major scientific and professional event in human genetics which brings together European and international geneticists. Conference	European Human Genetics Conference 2024 European Society of Human Genetics, Austria
2024/05/13 - 2024/05/15	15th International Symposium on variants in the genome Symposium	15th International Symposium on variants in the genome, Human Genome Organization (HUGO), United States
2024/03/11 - 2024/03/11	Symposium France-Québec (réflexions pluridisciplinaires sur les données incidentes/trouvailles fortuites en génomique et leurs gestion en pratique) Symposium	Symposium France-Québec (réflexions pluridisciplinaires sur les données incidentes/trouvailles fortuites en génomique et leurs gestion en pratique) Centre Hospitalier Universitaire Sainte-Justine, Canada
2024/02/01 - 2024/02/04	Congresso Português de Endocrinologia 2024, 75a Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo Congress	75a Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2023/06/10 - 2023/06/13	The annual ESHG conference is the major scientific and professional event in human genetics which brings together European and international geneticists. Conference	European Human Genetics Conference 2023 European Society of Human Genetics, Austria
2023/02/02 - 2023/02/05	Congresso Português de Endocrinologia 2023 – 74a Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo Congress	Congresso Português de Endocrinologia 2023 - 74ª Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo, Portugal
2020/10/01 - 2020/10/02	XV Annual CICS-UBI Symposium Symposium	XV Annual CICS-UBI Symposium Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2019/11/08 - 2019/11/08	Post graduate education on NGS/WES – Genomic revolution in the clinical practice. Introduction to NGS technologies; Clinical practice under the scope of new genetic technologies; Variant classes and classification principles; The relevance of population allele frequencies; Practice of alignment, prioritization of genes and variants; Real cases to be solved in our own computer. Workshop	NGS/WES – Genomic revolution in the clinical practice Sociedade Portuguesa de Doenças Metabólicas, Portugal
2019/07/04 - 2019/07/05	XIV Annual CICS-UBI Symposium Symposium	XIV Annual CICS-UBI Symposium Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2014/07/19 - 2014/07/24	Meeting of the 20th Biennial Meeting of the International Society for Developmental Neuroscience and the 5th Annual NeuroDevNet Brain Development Conference Meeting	20th Biennial Meeting of the International Society for Developmental Neuroscience and the 5th Annual NeuroDevNet Brain Development Conference International Society for Developmental Neuroscience (ISDN), Canada Kids Brain Health Network (KBHN), Canada

Association member

	Society Organization name	Role
2022/10/21 - Current	Portuguese Society of Endocrinology, Diabetes and Metabolism	Member
2005 - Current	Professional license as Diagnostic and Therapeutic Technician	Diagnostic and Therapeutic Technician - Pathological, Cytological and Thanatological Anatomy Technician

Distinctions

Award

2023	Oral communication award - XVIII International CICS-UBI Symposium Universidade da Beira Interior Centro de Investigação em Ciências da Saúde, Portugal
2011	Recognition for my participation in the development of the academic life of the CHU Sainte-Justine Research Center Centre de recherche du CHU Sainte-Justine, Canada

Other distinction

2023	ESHG Conference fellowship for European countries European Society of Human Genetics, Austria
2008	Master's Scholarships Department of Biochemistry Awarded as part of funding agreements from the Faculty of Graduate Studies Universite de Montreal Faculte de etudes superieures et postdoctorales, Canada Universite de Montreal Departement de biochimie et medecine moleculaire, Canada