Congratulations to Chiara Nicoletti, Ph.D., one of three winners of the Young Investigators Award at the 2024 Dysferlin Conference organized by Jain Foundation Inc. Nicoletti, a member of the Puri laboratory at Sanford Burnham Prebys, played a crucial role in analyzing and characterizing single-cell and single-nucleus gene expression in dysferlin-deficient muscle, a challenging task given the wide breadth of data. Nicoletti's efforts have led to a deepened understanding of #dysferlinopathy, a group of inherited muscle diseases characterized by progressive muscle weakness and atrophy. The conditions, for which there are no treatments or cures, are caused by a mutation in the gene that makes #dysferlin, which is important for efficient muscle repair.
We congratulate the winners of the Young Investigators Awards from the 2024 Dysferlin Conference. Alastair Khodabukus, Ph.D.,laboratory of Prof. Nenad Bursac, Duke University—Ali was instrumental in developing techniques for growing functional myobundles from iPS cells, and for characterizing and investigating several phenotypic abnormalities in dysferlin-deficient myobundles, involving calcium handling, cholesterol homeostasis, and metabolism. His work has yielded new insights into the function of dysferlin and identified potential treatment approaches. Stacey Nicole Keenan, Ph.D., laboratory of Prof. Matthew Watt, University of Melbourne—Stacey’s work has led to the identification and characterization of the extensive changes in lipid composition, storage, metabolism, and regulation that occur in muscle as a result of dysferlin deficiency. This work has shown the lipid abnormalities to be a distinctive key feature of dysferlinopathy, rather than a nonspecific downstream effect, raising potential therapeutic targets. Chiara Nicoletti, Ph.D., laboratory of Prof. Lorenzo Puri, Sanford Burnham Prebys Medical Discovery Institute—Chiara has played a leading role in data analysis in an ambitious undertaking involving three research groups to characterize single cell- and single nucleus gene expression in dysferlin deficient muscle. It has been known that in dysferlin deficiency there are large numbers of inflammatory infiltrates, but characterizing the cells, what genes they are expressing, and how they interact with each other is challenging. Chiara’s work in analyzing this large data set has been instrumental in increasing our understanding.
