Genetic Testing in the Era of NGS: Lessons from the Hereditary Connective Tissue Disorders
Автор: ERN ReCONNET
Загружено: 2025-07-01
Просмотров: 113
The webinar is dedicated to contextualizing general principles in the molecular diagnostics of the hereditary connective tissue disorders of interest for the members of ERN ReCONNET.
The speaker of this webinar is:
Dr. Marco Castori (MD, Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy)
The moderators of this webinar are:
Prof. Maurizio Cutolo (MD, Laboratory of Experimental Rheumatology and Academic Division of Clinical Rheumatology, Department of Internal Medicine and Medical Specialties (Di.M.I.), University of Genova – IRCCS Ospedale Policlinico San Martino – Genova, Italy)
Prof. Alberto Sulli (MD, Laboratory of Experimental Rheumatology and Academic Division of Clinical Rheumatology, Department of Internal Medicine and Medical Specialties (Di.M.I.), University of Genova – IRCCS Ospedale Policlinico San Martino – Genova, Italy)
Dr. Marco Castori is Head of the Division of Medical Genetics and Coordinator of the Rare Disease program at Fondazione IRCCS Casa Sollievo della Sofferenza (San Giovanni Rotondo, Italy). He obtained his PhD degree with a thesis on hypermobile Ehlers-Danlos syndrome. Dr. Castori is interested in the field of hereditary connective tissue disorders since 2004 with a more active scientific production in the last 14 years. His professional activity includes clinical consultations, follow-up, and supervision of molecular diagnostics in different areas, also comprising hereditary connective tissue disorders, hereditary aortopathies, cardiogenetics, oncogenetics, and neurodevelopmental disorders.
More info about Ehlers-Danlos Syndrome can be found here: https://reconnet.ern-net.eu/disease-eds/
You can register to the ERN ReCONNET Newsletter at the following link: https://reconnet.ern-net.eu/subscribe...
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