…TIMESLOT: Thursday 12 December 2024 16:00 CET
…THEME: The role of biopsy in Congenital Myopathies
…PRESENTERS: Prof. Dr. Norma Romero (Institute of Myology, Paris, France)
Norma B ROMERO MD, PhD, is a specialist physician at the Groupe Hospitalier Pitié-Salpêtrière, Sorbonne University, in Paris, France.
She headed the Neuromuscular Morphology Unit at the Institute of Myology (from 2002 to 2021 included), with the aim of analysing muscle biopsies from patients, both children and adults, for diagnostic purposes and identifying and characterising new forms of myopathy and new phenotypes.
It has always been interested in the study of genetic neuromuscular diseases and more particularly congenital myopathies (CM). The team has contributed to the identification of several new forms of CM as well as to the identification of different phenotypes of certain myopathies and the recognition of relevant morphological markers (Dusty cores, Necklace fibres). They took part in the national Myocapture network (>1000 exomes) directed by Jocelyn Laporte. We performed the Atlas of Muscle free available in the Myology Institute web side. Moreover, we also participate to numerous national and international collaborations.
Dr Norma B ROMERO participate actively from de beginning to the organisation of Summer School of the Myology Institute (AcadeMYO) and Summer school Latin-American (EVELAM).