BRIDGing the research and INnovation Gap for Rare Diseases in Europe by upgrading excellence of IMGGE

Información del proyecto

BRIDGING-RD

Identificador del acuerdo de subvención: 101160079

DOI

10.3030/101160079

Fecha de la firma de la CE 13 Mayo 2024

Fecha de inicio 1 Octubre 2024

Fecha de finalización 30 Septiembre 2027

Financiado con arreglo a

• Widening participation and spreading excellence

Coste total

Sin datos

Aportación de la UE

€ 1 440 187,50

Coordinado por

INSTITUT ZA MOLEKULARNU GENETIKU I GENETICKO INZENJERSTVO
Serbia

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Resultado final

Documents, reports (2)

Plan for dissemination and exploitation including communication (DEC) activities

Document stating the plan for dissemination and exploitation including communication (DEC) activities

Progress report for DEC activities

Report on progress of DEC activities midway trough the project.

Data Management Plan (1)

Data management plan

Data management plan which defines how data handled throughout the lifecycle of a project.

Websites, patent fillings, videos etc. (1)

Project’s public website, social media presence, promotional communication package

Proof of creation of project’s public website, social media accounts and promotional communication package

Publicaciones

Conference proceedings (9)

Establishing an in vitro model for primary ciliary dyskinesia to enable exploration of innovative treatment strategies in pulmonary diseases

Autores: Nina Stevanovic, Anita Skakic, Marina Parezanovic, Vesna Spasovski, Milena Ugrin, Jovana Komazec, Nikola Jocic, Maja Stojiljkovic, Marina Andjelkovic
Publicado en: 2025
Editor: Nature Conference – Engineered Models of Human Disease

Thalassemia syndromes in Serbia: the importance of genetic (re)analysis

Autores: Milena Ugrin, Jovana Komazec, Kristel Klaassen, Anita Skakic, Marina Andjelkovic, Vesna Spasovski, Nina Stevanovic, Marina Parezanovic, Sara Stankovic, Nikola Jocic, Sonja Pavlovic, Maja Stojiljkovic
Publicado en: 2025
Editor: European Journal of Human Genetics

Advancing the IMGGE RD Biobank through BRIDGING-RD Project: Achieving full interoperability of genetic and phenotypic data to enhance participation in transnational research and innovation for human health

Autores: Komazec, Jovana; Anđelković, Marina; Klaassen, Kristel; Skakić, Anita; Ugrin, Milena; Pavlović, Sonja; Nordgren, A.; Lindstrand, A.; Kjellqvist, S.; Matić, Lj.; Stojiljković, Maja
Publicado en: Europe Biobank Week 2025 conference, 2025
Editor: BBMRI-ERIC

Mitochondrial myopathy caused by MT-ND5 variant: integrating WES and mitochondrial DNA analysis.

Autores: Kristel Klaassen, Maja Djordjević, Božica Kecman, Djordje Pavlović, Sara Stanković, Marina Andjelković, Anita Skakić, Milena Ugrin, Jovana Komazec, Maja Stojiljković
Publicado en: 2025
Editor: 15th Balkan Congress of Human Genetics and 3rd Alpe Adria Meeting of Human Genetics

Advancing the IMGGE RD Biobank through BRIDGING-RD Project: Achieving full interoperability of genetic and phenotypic data to enhance participation in transnational research and innovation for human health

Autores: Komazec J, Andjelkovic M, Klaassen K, Skakic A, Ugrin M, Pavlovic S, Nordgren A, Lindstrand A, Kjellqvist S, Matic Lj, Stojiljkovic M
Publicado en: 2025
Editor: ESBB

Strengthening Rare Disease research through international collaboration

Autores: Steven Laurie, Ljubica Matic, Ann Nordgren, Anna Lindstrand, Richard Cowburn, Belen Perez, Maja Stojiljkovic
Publicado en: 2025
Editor: Re(ACT) congress, IRDiRC Conference

Pulmonary in vitro model system enables exploration of innovative treatment strategies for rare respiratory diseases.

Autores: Nina Stevanović, Anita Skakić, Marina Parezanović, Jovana Jasnić, Vesna Spasovski, Milena Ugrin, Jovana Komazec, Nikola Jocić, Maja Stojiljković, Marina Andjelković
Publicado en: 2025
Editor: 15th Balkan Congress of Human Genetics and 3rd Alpe Adria Meeting of Human Genetics

Applications of the new tool: VUS Notifier

Autores: Milan Domazet, Milena Ugrin, Marina Andjelkovic, Kristel Klaassen, Anita Skakic, Jovana Komazec, Vesna Spasovski, Sasa Todorovic, Maja Stojiljkovic
Publicado en: 2025
Editor: European Journal of Human Genetics

Unravelling phenylalanine-induced neuronal dysfunction: transcriptome analysis of NT2-derived neurons highlights neurite impairment and synaptic connectivity

Autores: Sara Stankovic, Andrijana Lazic, Marina Parezanovic, Marina Andjelkovic, Milena Ugrin, Milena Stevanovic, Sonja Pavlovic, Maja Stojiljkovic, Kristel Klaassen
Publicado en: 2025
Editor: European Journal of Human Genetics

Peer reviewed articles (3)

Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant

Autores: K. Klaassen, B. Kecman, S. Stankovic, J. Komazec, S. Pavlovic, Maja Stojiljkovic, M. Djordjevic
Publicado en: Scientific Reports, Edición 15, 2025, ISSN 2045-2322
Editor: Springer Science and Business Media LLC
DOI: 10.1038/S41598-025-04611-2

First Reported Use of Recombinant Parathyroid Hormone in Kenny–Caffey Syndrome Type 2: A Case Report and Literature Review

Autores: Maja Djordjevic Milosevic, Anita Skakic, Marina Andjelkovic, Angelica Maria Delgado-Vega, Håkan Thonberg, Kristel Klaassen, Jovana Komazec, Bozica Kecman, Nikola Jocic, Erik Björck, Anna Lindstrand, Maja Stojiljkovic
Publicado en: Diseases, Edición 14, 2026, ISSN 2079-9721
Editor: MDPI AG
DOI: 10.3390/DISEASES14030091

Scientific Reports

Autores: K. Klaassen; B. Kecman; S. Stankovic; J. Komazec; S. Pavlovic; Maja Stojiljkovic; M. Djordjevic
Publicado en: Scientific Reports, 2025, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/S41598-025-04611-2