Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.

Autor: Austin CP; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Cutillo CM; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Lau LPL; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France., Jonker AH; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France., Rath A; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Orphanet, Inserm-US14, Rare Diseases Platform, Paris, France., Julkowska D; Agence Nationale de la Recherche (ANR), Paris, France., Thomson D; Shire, Lexington, Massachusetts, USA, (until April 2017)., Terry SF; Genetic Alliance, Washington DC, USA., de Montleau B; EURORDIS-Rare Diseases Europe, Paris, France., Ardigò D; Corporate Drug Development, Chiesi Farmaceutici S.p.A., Italy., Hivert V; EURORDIS-Rare Diseases Europe, Paris, France., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Western Australian Register of Developmental Anomalies, Perth, Australia., Kaufmann P; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Suematsu M; Japan Agency for Medical Research and Development (AMED), Tokyo, Japan., Incerti C; Sanofi Genzyme, Cambridge, Massachusetts, USA., Draghia-Akli R; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).; Merck & Co. Inc., Upper Gwynedd, Pennsylvania, USA, (from June 2017)., Norstedt I; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017)., Wang L; National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA., Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.

Publikováno v: Clinical and translational science [Clin Transl Sci] 2018 Jan; Vol. 11 (1), pp. 21-27. Date of Electronic Publication: 2017 Oct 23.

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.

Autor: Atalaia, Antonio¹ (AUTHOR) antonio.marques-atalaia@inserm.fr, Wandrei, Dagmar² (AUTHOR), Lalout, Nawel^3,4 (AUTHOR), Thompson, Rachel⁵ (AUTHOR), Tassoni, Adrian² (AUTHOR), 't Hoen, Peter A. C.³ (AUTHOR), Athanasiou, Dimitrios⁶ (AUTHOR), Baker, Suzie-Ann⁶ (AUTHOR), Sakellariou, Paraskevi⁷ (AUTHOR), Paliouras, Georgios⁷ (AUTHOR), D'Angelo, Carla⁸ (AUTHOR), Horvath, Rita⁹ (AUTHOR), Mancuso, Michelangelo¹⁰ (AUTHOR), van der Beek, Nadine¹¹ (AUTHOR), Kornblum, Cornelia¹² (AUTHOR), Kirschner, Janbernd¹³ (AUTHOR), Pareyson, Davide¹⁴ (AUTHOR), Bassez, Guillaume¹⁵ (AUTHOR), Blacas, Laura¹⁶ (AUTHOR), Jacoupy, Maxime¹⁶ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 2/14/2024, Vol. 19 Issue 1, p1-15. 15p.

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.

Autor: de la Fuente, Lorena^1,2,3 (AUTHOR), Del Pozo-Valero, Marta^1,2 (AUTHOR), Perea-Romero, Irene^1,2 (AUTHOR), Blanco-Kelly, Fiona^1,2 (AUTHOR), Fernández-Caballero, Lidia^1,2 (AUTHOR), Cortón, Marta^1,2 (AUTHOR), Ayuso, Carmen^1,2 (AUTHOR), Mínguez, Pablo^1,2,3 (AUTHOR) pablo.minguez@quironsalud.es

Publikováno v: International Journal of Molecular Sciences. Jan2023, Vol. 24 Issue 2, p1661. 21p.

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Autor: Martínez-Rubio, Dolores^1,2 (AUTHOR), Hinarejos, Isabel^1,2 (AUTHOR), Sancho, Paula¹ (AUTHOR), Gorría-Redondo, Nerea³ (AUTHOR), Bernadó-Fonz, Raquel³ (AUTHOR), Tello, Cristina¹ (AUTHOR), Marco-Marín, Clara⁴ (AUTHOR), Martí-Carrera, Itxaso⁵ (AUTHOR), Martínez-González, María Jesús⁶ (AUTHOR), García-Ribes, Ainhoa⁶ (AUTHOR), Baviera-Muñoz, Raquel^2,7,8 (AUTHOR), Sastre-Bataller, Isabel^2,8 (AUTHOR), Martínez-Torres, Irene^2,8 (AUTHOR), Duat-Rodríguez, Anna⁹ (AUTHOR), Janeiro, Patrícia¹⁰ (AUTHOR), Moreno, Esther¹¹ (AUTHOR), Pías-Peleteiro, Leticia¹² (AUTHOR), Gordo, Mar O'Callaghan¹² (AUTHOR), Ruiz-Gómez, Ángeles¹³ (AUTHOR), Muñoz, Esteban¹⁴ (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Oct2022, Vol. 23 Issue 19, p11847. 26p.

DDIEM: drug database for inborn errors of metabolism.

Autor: Abdelhakim, Marwa^1,2 (AUTHOR), McMurray, Eunice³ (AUTHOR), Syed, Ali Raza^1,2 (AUTHOR), Kafkas, Senay^1,2 (AUTHOR), Kamau, Allan Anthony¹ (AUTHOR), Schofield, Paul N³ (AUTHOR), Hoehndorf, Robert^1,2 (AUTHOR) robert.hoehndorf@kaust.edu.sa

Publikováno v: Orphanet Journal of Rare Diseases. 6/11/2020, Vol. 15 Issue 1, p1-12. 12p.