Dr Anneliene Jonker is a researcher in rare diseases therapeutic innovation at the Health Technology and Services Research (HTSR) group at the University of Twente, Enschede the Netherlands since 2023. She obtained her Ph.D. in genetics in 2014 from the University of Paris XI, France and Institut Curie, France. Her main research interest is in the interface of therapy development for rare diseases, policy sciences and regulatory sciences. She serves as the Vice Chair of the Therapies Scientific Committee of the International Rare Diseases Research Consortium, for which she chairs different global working groups and Task Forces, on topics such as drug repurposing, orphan devices and N-of-1 therapy development. She is also an assistant editor for Orphanet Journal of Rare Diseases. 

She is also the Scientific Director of Duchenne Parent Project, a patient organisation for the rare disease Duchenne Muscular Dystrophy, since November 2023.


Other contributions

European expert recommendations on clinical investigation and evaluation of high-risk medical devices for childrenGuerlich, K., Patro-Golab, B., Barnacle, A., Baumann, U., Eicken, A., Fraser, A. G., Gruszfeld, D., Haas, N. A.,¬† Jonker, A. H., Kammermeier, M., Kenny, D., Kolańćek, S., Lapatto, R., Maconochie, I., Mader, S., McGauran, G., Melvin, T., Muensterer, O., Piscoi, P., Romano, A.,¬† & 5 others,¬† Nov 2023,¬† In:¬†Acta paediatrica.¬† 112,¬† 11,¬† p. 2440-2448¬† 9 p.

How to START? Four pillars to optimally begin your orphan drug development on behalf of the IRDiRC ODDG TF and IRDiRC TSC,  Dec 2023,  In: Orphanet Journal of Rare Diseases.  18,  1, 229.

The IRDiRC Drug Repurposing Guidebook: making better use of existing drugs to tackle rare diseases Jonker, A. H., O’Connor, D., Gabaldo, M., Day, S., Kort, M. D., Stone, H. & Pasmooij, A. M. G.,  12 Sept 2023,  The IRDiRC Drug Repurposing Guidebook: making better use of existing drugs to tackle rare diseases.

Research on rare diseases: ten years of progress and challenges at IRDiRCMonaco, L., Zanello, G., Baynam, G.,  Jonker, A. H., Julkowska, D., Hartman, A. L., O’Connor, D., Wang, C. M., Wong-Rieger, D. & Pearce, D. A.,  May 2022,  In: Nature Reviews Drug Discovery.  21,  5,  p. 319-320  2 p.

Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from fundersHartman, A. L.,  Jonker, A. H., Parisi, M. A., Julkowska, D., Lockhart, N. & Isasi, R.,  Feb 2020,  In: European journal of human genetics.

Model consent clauses for rare disease researchNguyen, M. T., Goldblatt, J., Isasi, R., Jagut, M.,  Jonker, A. H., Kaufmann, P., Ouillade, L., Molnar-Gabor, F., Shabani, M., Sid, E., Tassé, A. M., Wong-Rieger, D., Knoppers, B. M., Gabor, F. M., Shabani, M. & Tassé, A. M.,  1 Aug 2019,  In: BMC Medical Ethics.  20,  1, 55.

The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases-recommendations of the IRDiRC Data Mining and Repurposing Task ForceIRDiRC Data Mining and Repurposing Task Force,  15 Oct 2019,  In: Orphanet Journal of Rare Diseases.  14,  1, 225.

Recommendations for the design of small population clinical trialsDay, S.,  Jonker, A. H., Lau, L. P. L., Hilgers, R. D., Irony, I., Larsson, K., Roes, K. C. & Stallard, N.,  6 Nov 2018,  In: Orphanet Journal of Rare Diseases.  13,  1, 195.

Future of Rare Diseases Research 2017‚Äď2027: An IRDiRC Perspectiveon behalf of the International Rare Diseases Research Consortium (IRDiRC),¬† Jan 2018,¬† In:¬†Clinical and Translational Science.¬† 11,¬† 1,¬† p. 21-27¬† 7 p.

Deciphering tissue morphodynamics using bioimage informaticsDufour, A. C.,  Jonker, A. H. & Olivo-Marin, J-C.,  19 May 2017,  In: Philosophical Transactions of the Royal Society B: Biological Sciences.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impactLochm√ľller, H.,¬†TorrentFarnell, J.,¬†Le Cam, Y.,¬† Jonker, A. H.,¬†Lau, L. P.,¬†Baynam, G.,¬†Kaufmann, P.,¬†Dawkins, H. J.,¬†Lasko, P.,¬†Austin, C. P.¬†&¬†Boycott, K. M.,¬† 1 Dec 2017,¬† In:¬†European journal of human genetics.¬† 25,¬† 12,¬† p. 1293-1302¬† 10

'IRDiRC Recognized Resources': A new mechanism to support scientists to conduct efficient, high-quality research for rare diseasesLochm√ľller, H.,¬†Le Cam, Y.,¬† Jonker, A. H.,¬†Lau, L. P.,¬†Baynam, G.,¬†Kaufmann, P.,¬†Lasko, P.,¬†Dawkins, H. J.,¬†Austin, C. P.¬†&¬†Boycott, K. M.,¬† 1 Feb 2017,¬† In:¬†European journal of human genetics.¬† 25,¬† 2,¬† p. 162-165¬† 4 p.

The importance of international collaboration for rare diseases research: A European perspectiveJulkowska, D., Austin, C. P., Cutillo, C. M., Gancberg, D., Hager, C., Halftermeyer, J.,  Jonker, A. H., Lau, L. P. L., Norstedt, I., Rath, A., Schuster, R., Simelyte, E. & Van Weely, S.,  1 Sept 2017,  In: Gene Therapy.  24,  9,  p. 562-571  10 p.

Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatelliteGr√ľnewald, T. G. P., Bernard, V., Gilardi-Hebenstreit, P., Raynal, V., Surdez, D., Aynaud, M. M., Mirabeau, O., Cidre-Aranaz, F., Tirode, F., Zaidi, S., Perot, G.,¬† Jonker, A. H., Lucchesi, C., Le Deley, M. C., Oberlin, O., Marec-B√©rard, P., V√©ron, A. S., Reynaud, S., Lapouble, E., Boeva, V.,¬† & 12 others,¬† 27 Aug 2015,¬† In:¬†Nature genetics.¬† 47,¬† 9,¬† p. 1073-1078¬† 6 p.

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