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, at the Centre of Research in Myology (Sorbonne Université-Inserm, Institut de Myologie, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France).

Aim of the position

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.

Context

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

Candidates should have a master’s or equivalent in medical science and/or pharmacology
or a related scientific subject and expertise in human genetics and bioinformatics (knowledge and
experience in the field of myology would be a plus).

More details

For further details, please contact:

Gisèle Bonne, PhD and Antonio Atalaia, MD
Center of Research in Myology
Sorbonne Université – Inserm UMRS 974
Institut de Myologie
G.H. Pitié-Salpêtrière
47, boulevard de l’Hôpital
F-75 651 Paris Cedex 13 – France
Tel: +33 1 42 16 57 23 (or 17)
E‐mail : gisele.bonne@inserm.fr / antonio.marques-atalaia@inserm.fr
https://recherche-myologie.fr/