진학프로석·박사 채용 접수 플랫폼

Centre of Research in Myology, Sorbonne Université-Inserm UMRS974, Institut de Myologie Groupe Hospitalier Pitié‐Salpêtrière, Paris, France

Description: Within the EU-Horizon Europe CoFund Project “ERDERA, European Rare Diseases
Research Alliance”, a medical research assistant is available in the team of Gisèle Bonne. The mission of the ERDERA is to transform rare disease research and care in Europe. By building on the achievements of previous partnerships’, ERDERA will: i) enhance collaboration, align research funding and enable optimal integration of EU and national rare diseases strategies and plans; ii) bridge the huge gap that hampers the translation of research results into cost-effective solutions that reach patients, and iii) help reduce the fragmentation of knowledge and data and evolve towards a holistic approach to research and innovation in rare diseases.

In this context, the candidate will be in charge of the extension and upgrade of the recently established Treatabolome database, i.e., a database of currently known “treatable genes” and associated treatment strategies for Rare Diseases by literature review and data-mining approaches with curation by expert clinicians.
The team has long-standing expertise in the molecular genetics of neuromuscular disorders in close interactions with national and international reference centres of neuromuscular diseases. The laboratory is a Joint Research Unit of the Sorbonne Université and INSERM, part of the Myology Institute located on the Pitié‐Salpêtrière Hospital campus, and offers a highly interactive and international research environment with state‐of‐the‐art core facilities.

Qualifications: MD degree or equivalent. Expertise in human genetics and bioinformatics highly recommended Medical knowledge, in the field of essential rare diseases and in particular that of neuromuscular diseases and myology.