Jan Hoeijmakers receives funding and is coordinating a European Joint Project on Rare Diseases

Prof. Dr. Jan Hoejimakers

The project „Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases”, short TC NER, received 1.2 million Euros funding

In December 2019 the European Joint Project on Rare Disease (EJP RD= launched its second Joint Transnational Call (JTC2020) co-funded with the European Commission to fund multilateral “Pre-Clinical Research to Develop Effective Therapies for Rare Diseases”. The aim: enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear benefit for patients.

Out of 173 eligible pre-proposals 30 were selected for full submission.Following the second evaluation of a scientific committee, the 18 best projects were selected to get a portion of a foreseen budget of about 24.5 million Euros including €2.7 M of co-funding from the European Commission. TC NER, which is coordinated by Prof. Dr. Jan Hoeijmakers and Dr. Akos Gyenis, received 1.2 million Euros.

“We are honored to receive the support of the EJP RD. Within this European Joint Program consortium, we aim to mechanistically understand the interplay between nutrition, metabolism, neuronal functioning and DNA damage induced transcription stress and explore effects of nutrition in rare genome instability syndromes like ataxia telangiectasia or Fanconi anemia. These aspects will be studied at multiple levels: cells, organoids, mouse models, and cells from patients to provide evidence-based nutritional advice and improved care and quality of life of patients with these rare diseases,” said Hoeijmakers.

The research will be carried out at CECAD and the Institute for Genome Stability in Ageing and Disease.

Partners involved: Vincent Laugel (Strasbourg, FR) – Pier Giorgio Mastroberardino (Milan, IT) – Wilbert Vermeij (Utrecht, NL) – Umut Altunoğlu (Istanbul, TR) – Wim Vermeulen/Arjan Theil (Rotterdam, NL) and CS and TTD patient organisation “Amy and Friends” (representative: Daniëlle Soontiëns, NL, part of the international “Amy and Friends” Organisation, UK)

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