Sabine de Chastonay

Director of Development, Cure CMD Research Associate and Study Coordinator, CMDIR (Congenital Muscle Disease International Registry)

Dr de Chastonay contributes as a part-time volunteer research associate to advance the goals of the CMDIR (Congenital Muscle Disease International Registry) applying a science background which is in Molecular- and Microbiology. The goals of the CMDIR are (1) to continuously update the data base with patients worldwide affected by a congenital muscle disease caused by genetic mutation, (2) to improve patient care, (3) facilitate genetic testing, and (4) to conduct and coordinate studies in preparation for clinical trials.

Sanbine's focus within the CMDIR is currently on requesting and curating medical records of registrants and coordinating genetic testing for registrants who do not have a genetic diagnosis yet as well as outreach to registrants who may be eligible for upcoming studies.

In the course of several studies within the MTM patient cohort (XLMTM AE Study, MTM Genetic Testing Study sponsored by Valerion Therapeutics, MTM Manifesting Carrier Study, Audentes Recensus Study), she has established a relationship for future studies

Since August 2015, Dr de Chastonay has held the newly created position of Director of Development for Cure CMD. This allows her to interact not only with the CMD community but also with researchers, clinicians, the pharmaceutical industry, advocacy and funding organizations striving to improve the lives of the affected.

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