Sylvie Tuffery-Giraud

Research Engineer

INSERM

Sylvie Tuffery-Giraud

Sylvie Tuffery-Giraud (PhD) has 16 years experience in molecular analysis of the dystrophin gene and is particularly involved in mutations leading to splicing defects. She is one of the curators of the UMD-DMD database. She has published 44 international papers and she received one award. She is involved in one National standardisation committee.

Since her PhD studies in 1994, Sylvie has been working on the DMD gene in the laboratory of Molecular Genetics in Montpellier, one of the french national reference centers for the molecular diagnosis of dystrophinopathies in France. She has participated to the molecular diagnosis of DMD for several years and has contributed to the set up of diagnostic strategies based on RNA studies. Sylvie is one of the curators of the French UMD-DMD database.

Her current research activities are tightly connected to the diagnostic activities in the laboratory and focus on functional analyses of genetic aberrations, notably those having an impact on splicing. She has a particular interest in understanding the molecular mechanisms underlying splicing regulation of the DMD gene through the identification of the cis- and trans- factors involved.


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