EJP RD Research Mobility Fellowships 

As part of its educational activities, EJP RD runs a Research Mobility Fellowship Programme dedicated to young researchers in the European Reference Networks

The first round of applications was concluded successfully in July 2020. Out of 16 applications received, the Scientific Evaluation Committee selected six outstanding applications by fellows from Belgium, Denmark, the Netherlands, Slovenia, Spain, and the UK. The exchange visits involved research units from the following ERNs: ERN-RND, EURO-NMD, ERKNet, eUROGEN, ERNICA, and ERN-Eye.

Calls 2 and 3 were successfully concluded with 9 and 17 funded research projects, respectively. In Call 3 (spring 2021), exchanges between ERNs and non-ERN institutions were allowed, and the duration of the visits was extended from 3 to 6 months. The fourth was launched in winter 2022 and included 17 successful applicants from 20 eligible. 

Call 5 took place in spring 2022 where 16 fellows were selected out of 21 eligible applications.

The final fellowship call 6 was concluded in Autumn 2022 and resulted in a total of 31 eligible applications, out of which 26 were selected for funding

All proposals were evaluated by the Scientific Evaluation Committee (SEC) that is composed of three WP17 leaders, three independent external scientific experts, and one representative of the EJP RD office. 

Agne Bubilaite

Project title: Management of autoimmune blistering diseases associated with mucous involvement and malignancies based on gained experience of novel indirect immunofluorescence method.
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Laura Costa

Project title: Inherited Myopathies: Diagnostic value of clinical deep phenotyping, imaging and muscle biopsy in the era of Next Generation Sequencing
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Núria Dueñas

Project title: Colorectal cancer risk personalization using polygenic risk score analysis in Lynch syndrome individuals.
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Silvia Valeggia

Project title: Black-bone MRI evaluation of cranial vault and temporal bone in craniosynostoses
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Carlo Wilke

Project title: Beyond family-based exome analysis: advanced cohort-level bioinformatic approaches for assessing genetic burden in rare neurodegenerative diseases
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Oana Ofelia Bulaicon-Danila

Project title: The influence of Growth Hormone excess secretion on the outcome of Fibrous Dysplasia in patients with McCune Albright Syndrome
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Giada De Lazzari

Project title: Patient-derived intestinal 3D model for studying rare disorders: the Tricho-Hepato-Enteric Syndrome paradigm (TH3S)
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Filipa M. Duarte

Project title: The FUZ gene in craniosynostosis: from a mouse knock-out model to patient-specific in vitro disease modelling.
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Stephanie Efthymiou

Project title: Improving our understanding of the global genetic architecture and phenotype of FSHD
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Jeroen Kerstens

Project title: Neuronal autoantibodies in patients with unexplained ataxia and/or parkinsonism
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Tilde Kristensen

Project title: Retrospective study on relapse treatment strategies in adult minimal change nephropathy
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Eszter Levai

Project title: The role of PARK7 in mesothelial and vascular endothelial barrier integrity and function in peritoneal dialysis
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Consiglia Longobardi

Project title: Uremic toxins in severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID): the role of gut-kidney axis
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Maartje Meier

Project title: Incidence and prevalence of fibrous dysplasia/McCune-Albright syndrome – a nationwide registry-based study in Denmark
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Vesna Miladinovic

Project title: Quantitative functional MR imaging and correlation with pathology
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Marija Miletić

Project title: Treatment patterns and real-world evidence for patients with penile cancer in specialised healthcare providers within European Reference Network on urogenital diseases and conditions (ERN eUROGEN) network
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Beste Ozsezen

Project title: Piccolo E Respiro” (PER) in Tuscany - Health conditions at 18 years of age in an area-based cohort of subjects born severely preterm: the PER-2project.
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Dmitrijs Rots

Project title: Role of rare Epivariants in NDDs
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Eva Vrščaj

Project title: Continuous movement monitoring in Duchenne Muscular Dystrophy
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Pinelopi Arvaniti

Project title: Non-alcoholic fatty liver disease (NAFLD) in autoimmune hepatitis (AIH): how does metabolic liver injury affect immune response and disease progression?
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Clarissa Becher

Project title: Regulation of Activin signaling by shear stress in pulmonary arterial hypertension
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Julie Bernardor

Project title: Comprehensive molecular and functional understanding of early vascular calcifications in children with chronic kidney disease – building up an international pediatric CKD vascular disease research network.
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Dominika Borselle

Project title: Regenerative medicine in the treatment of congenital long-gap esophageal atresia
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Isaac Maximiliano Bugueno

Project title: Comparison of rare disease patients' clinical pathways within the ERN oro-dental expert centers
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Viola D’Ambrosio

Project title: The Role of Oxalate in End Stage Kidney Disease
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Ana Daniela de Oliveira e Silva

Project title: Clinical and molecular characterisation of BAF complex-related genetic syndromes
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Matthias De Wachter

Projects titles: 1) Phenotype-genotype correlation in RORA-related neurodevelopmental disorders 2) 4-AP in GOF or mixed function KCNA2 encephalopathy 3) Precision medicine in epilepsy: opinions from clinicians
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Valentina Di Micco

Project title: Predicting epilepsy surgery outcome
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Martinica Garofalo

Project title: Retrospective assessment of early motor repertoire and movement disorders-like features in school aged children with Developmental Coordination Disorder
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Elisabetta Indelicato

Project title: A Multiomics Approach to unsolved Rare Movement Disorders
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Hanna Lif

Project title: Correlation between the skull base and orbit in Unicoronal craniosynostosis
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Silvana Lobo

Project title: CTNNA1 in Hereditary Diffuse Gastric Cancer: unveiling 2nd hit mechanisms and somatic alterations
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Daniel López Domínguez

Project title: Neurofilament light chain as a biomarker for Spinocerebellar ataxias. Study of its correlations with motor, cognitive, and radiological parameters.
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Ilse Luyckx

Project title: In-depth characterization of mice lacking SMAD6 expression using an immune-histological approach
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Ana Rita Matos

Project title: The primary genetic cause and beyond: the life-time risk and phenotype modifiers in HDGC
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Jonas Mellgren

Project title: Clinical and Experimental Studies on Unicoronal Synostosis
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Giulia Mottadelli

Project title: In vitro modelling of Hirschsprung disease: potential of generation and characterisation of enteric nervous system progenitors
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Kirsten Nowlan

Project title: The Role of Inflammatory Triggers in the Manifestation of Thymic Abnormalities that Leads to Autoimmunity.
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Gizem Onder

Project title: Investigation of predisposition of leukemia and lymphoma
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Hüseyin Örün

Project title: Late mortality and causes of death among >5year survivors after sarcomas during childhood, diagnosed in the period 1960-1999 and registered in the Italian Off-Therapy Registry
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Filippo Maria Panfili

Project title: Follow up and clinical evolution of Plexiform Neurofibromas in NF1 pediatric patients treated with Selumetinib
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Annachiara Pastore

Project title: Identification of single-cell RNA sequencing in a mouse model of Fanconi Bickel Syndrome
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Helena Pernice

Project title: The genetics of complex Charcot-Marie-Tooth disease
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Nóra Pető

Project title: Epileptic Arousals
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Maria Giovanna Ruggiu

Project title: Project title: the impact of early introduction of the Ketogenic diet in patients with Epilepsy with Myoclonic-Atonic Seizures (EMAS)
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Cristian Ruiz

Project title: Advancing Single-Cell Genomics in Pediatric Brain Tumors Research
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Jeanesse Scerri

Project title: Cardiogenetics: Bridging the Gap
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Sarah Shalaby

Project title: Circulating microvescicles as disease specific biomarkers and predictors of portal vein thrombosis in patients with porto-sinusoidal vascular disorder
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Ewa Sieliwonczyk

Project title: Exploration of novel electrocardiographic markers and genetic drivers of electrical dysfunction in dilated cardiomyopathy
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Aleksandre Tavadze

Project title: The regulation of innate immunity and the pathogenesis of rare autoinflammatory diseases
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Elisa Vegezzi

Project title: Genetic modifiers in hereditary ATTR amyloidosis
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Aleksandra Vujović

Project title: Use of antibiotic prophylaxis in patients receiving C5 Inhibitors and aHUS subregistry
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Karin Wallander

Project title: Translational study of the genetic cause for serrated polyposis syndrome and colorectal cancer
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Marius Wits

Project title: Therapeutic Targeting of the Activator Protein-1 complex in Fibrodysplasia Ossificans Progressiva
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