The aim of Marta's thesis is to unveil the cellular and molecular drivers of hypomyelination in Down syndrome.
Oligodendrocyte brain organoids provide a platform to recapitulate the cellular pathology of genetic myelin disorders such as multiple sclerosis in adults and leukodystrophy in children and enable drug screening.
Down syndrome is also known as trisomy 21, a genetic disorder in which a baby is born with an extra chromosome causing developmental and intellectual delays and premature aging. Hypomyelination was recently reported in Down syndrome, however, it is unknown whether defects in oligodendrocytes generation or maturation drive the hypomyelination pathology in Down syndrome. Moreover, Down syndrome is associated with increased risk of endocrine abnormalities particularly hypothyroidism. Active thyroid hormone (triiodothyronine) plays an important role in myelin formation, oligodendrocyte differentiation and function. This study aims to first characterise the cell-autonomous (oligodendrocytes) and non-cell autonomous (neurons, astrocytes, and microglia) during oligodendrocytes differentiation and maturation in brain organoids. And second to evaluate the effects of triiodothyronine treatments on oligodendrocytes differentiation and maturation in brain organoids.
Visiting research student from University of Copenhagen (Denmark). MSc in Molecular Biomedicine at University of Copenhagen. Graduated student in Biochemistry and Biomedical Sciences Bachelor's degree at University of Valencia (Spain).
Collaborations
University of Copenhagen (Denmark)