New treatments for hereditary muscle disorders

Friedrich Wilhelm Bessel Research Award winner Dr. Ana Ferreiro Sieiro to conduct research at FAU

Congenital myopathies are a group of genetic muscle disorders that develop during childhood. They lead to muscle weakness and muscle loss and frequently to heart or respiratory failure. No specific treatments currently exist for these disorders, which affect patients severely and are often fatal. Dr. Ana Ferreiro Sieiro, an internationally renowned expert in this field, has received the 2021 Friedrich Wilhelm Bessel Research Award from the Alexander von Humboldt Foundation. Thanks to the award worth €45,000, she can begin a longer research stay at the Institute of Neuropathology at Universitätsklinikum Erlangen and FAU.

During the last 20 years, Dr. Ana Ferreiro Sieiro’s work has played a significant role in identifying several genetic defects that cause congenital myopathies. Her clinical and genetic research has already contributed to improvements in diagnosing children affected by these disorders and to preventing certain secondary diseases. It is now also possible to offer advice specific to each condition to affected families. Dr. Ferreiro’s current research involves investigating the mechanisms that lead from a certain genetic defect to severe damage of skeletal muscle mass and how this process develops. This knowledge forms the basis for new forms of treatment. Her work has already led to the identification of new medications that are effective against congenital myopathies in cell models and animal models. The first treatment trials are now underway.

Paris and Erlangen join forces in research into myopathies

In 2019, the research groups of Dr. Ferreiro in Paris and Prof. Dr. Rolf Schröder at the Institute of Neuropathology in Erlangen began cooperating on research into the pathophysiology of rare muscle disorders. They have already published the initial results of their joint research in the internationally renowned journal Circulation. The Bessel Research Award means they can now intensify their collaboration in this area. They intend to test the efficacy of new pharmacological treatments in animal and cell models for rare human myopathies in a series of projects.

Dr. Ferreiro is a specialist in neurology at the Institute of Myology at the Pitié-Salpêtrière Hospital in Paris, an internationally recognised centre for children and adults with rare neuromuscular disorders. She is also head of research at INSERM, the French National Institute of Health and Medical Research, and head of the laboratory for ‘Fundamental and Translational Myology’ at the Université de Paris, Frankreich. Dr. Ferreiro has been appointed as research director at the European Neuromuscular Centre (ENMC) in Baarn, The Netherlands since 2019.

Further information:

Prof. Dr. Rolf Schröder
Phone: +49 9131 85 34782
rolf.schroeder@uk-erlangen.de