Reprogramming Pediatric Genetic Disorders
Subtitle: Pearson Syndrome, Ring 14 Syndrome, and Fanconi Anemia
Contributors: Daley, George Q.; Alt, Fred; Zon, Leonard; Poduri, Annpurna; Mostoslavsky, Gustavo
Published: 2014
Language: eng
Description: The effect of a single genetic mutation can vary greatly between different types of cells. The mutated gene may not be expressed in one tissue but may cause a devastating loss of function in another. To learn about disease mechanisms and generate novel therapies, genetic disorders must be studied in the types of cells where the mutations are most deleterious. Recently, scientists have begun manipulating cellular identity to create the cell types most affected by various genetic diseases. This dissertation describes the experience of generating reprogramming models for three genetic disorders: Ring 14 syndrome, Pearson syndrome, and Fanconi anemia.
Notes: Keywords: Disease model, Fanconi Anemia, Heteroplasmy, iPS, Pearson syndrome, Ring 14.

Thesis Ph.D. Harvard University 2014