Report: Mapping Facioscapulohumeral muscular dystrophy through single nuclei RNA sequencing

Report by Dr. Tasca
See also Mapping Facioscapulohumeral muscular dystrophy through single nuclei RNA sequencing

This project aims to answer key questions in FSHD (Facioscapulohumeral Muscular Dystrophy) research, particularly identifying which muscle cells are affected by the toxic effects of DUX4, a protein linked to the disease. Over the first six months, we successfully isolated cell nuclei from frozen muscle biopsies of both FSHD patients and healthy individuals, followed by sequencing the RNA within these nuclei. RNA acts as a crucial messenger, carrying DNA's instructions to produce proteins, which are the bricks forming the structure and supporting the function of our muscles.

This research is unique because the biopsies represent different stages of FSHD, allowing us to study not only where the toxic effects occur but also when during the process of muscle degeneration they begin.

Next, we plan to expand our sample size and analyze the vast data generated by these advanced sequencing techniques. Our goal is to gain new insights into FSHD progression, bridging the gap between lab research and new treatment development. Additionally, we hope to identify biomarkers—molecules that can help us detect and track disease progression more precisely.

This project aims to answer key questions in FSHD (Facioscapulohumeral Muscular Dystrophy) research, particularly identifying which muscle cells are affected by the toxic effects of DUX4, a protein linked to the disease. Over the first six months, we successfully isolated cell nuclei from frozen muscle biopsies of both FSHD patients and healthy individuals, followed by sequencing the RNA within these nuclei. RNA acts as a crucial messenger, carrying DNA's instructions to produce proteins, which are the bricks forming the structure and supporting the function of our muscles.

This research is unique because the biopsies represent different stages of FSHD, allowing us to study not only where the toxic effects occur but also when during the process of muscle degeneration they begin.

Next, we plan to expand our sample size and analyze the vast data generated by these advanced sequencing techniques. Our goal is to gain new insights into FSHD progression, bridging the gap between lab research and new treatment development. Additionally, we hope to identify biomarkers-molecules that can help us detect and track disease progression more precisely.