Identification of new genetic conditions in undiagnosed children

Over the years Vincenzo Nigro has gained clinical and genetic experience on muscular dystrophies, characterising new genes and diagnosing over 3,000 cases. In recent years, Prof. Nigro has coordinated research projects on the gene therapy of delta-sarcoglycanopathy and on the identification and classification of novel causes of genetic myopathies through next generation sequencing (NGS). He has developed a number of specific strategies for detecting mutations in neuromuscular disorders, lysosomal storage disorders, neufibromatosis, kidney disorders, etc. Using the NGS platforms, his group has studied Italian undiagnosed cases since 2011. He is the coordinator of the Telethon “Undiagnosed Diseases Programme”, which was launched in 2016 to progress understanding on undiagnosed diseases. So far, the programme has uncovered disease causing mutations in >240 families with unsolved genetic conditions. The "Total Award" amount indicated for this project represents the share of the funding of the Telethon Foundation for research by the Tigem institute from January 2022 until last budget year, calculated based on the size of the research group.