About: Rossella Tupler, M.D.,Ph.D.is Associate Professor of Medical Genetics at the University of Modena and Reggio Emilia, Modena,Italy and Research assistant Professor at the University of Massachusetts Medical School, Worcester, USA.Prof.
Tupler has been a Principal Investigator since 1992, investigating molecular mechanisms at the basis of facioscapuloumeral muscular dystrophy (FSHD).
- Discovery that haploin sufficiency of the FSHD locus does not cause FSHD (J Med Genet 1996);
- Discovery that FSHD can be expressed differently in presence of identical genetic background, (J Med Genet, 1998);
- First demonstration that transcriptional profile is profoundly altered in FSHD affected muscle (Proc Natl Acad Sci U S A,1999);
- First prediction of novel transcriptional regulators and splicing factors based on the first human genome sequence (Nature2001);
- Discovery that transcriptional deregulation is at the basis of FSHD via reduction of repetitive elements (Cell, 2002);
- Generation of the first animal model for FSHD (Nature, 2006);
- Establishment of a standardized clinical evaluation of patients affected by FSHD to generate the FSHD clinical score (Muscle and Nerve,2010);
- Discovery that the current diagnostic molecular marker for FSHD diagnosis is a common polymorphism (J Med Genet 2012, Am J Hum Genet, 2012).
- Discovery that gender and degree of kinship contribute to FSHD development in relatives carrying th eFSHD molecular signature (Brain, 2013).
- Definition of the phenotypic consequences on muscle contraction of altered Tnnt3 is o forms in mice over expressing FSHD Region Gene 1 (FRG1) (Am J Physiol Regul Integr CompPhysiol. 2014).
- .Described the clinical characteristic of early onset FSHD and defined that infantile FSHD is not associated with congenital onset(BMJ open,2016)