A Journey Through the Brain & Heart and Into The Machine.
- Author(s): Schafer, Leen Jamal;
- Advisor(s): Yeo, Eugene;
- et al.
Our inherent curiosity as scientists drives us to climb higher and reach summits that give us a better view of our biological landscape. Biological sciences has grown exponentially more multidisplinary in the past decade, demanding that students in the field become ”Renaissance” scientists: It is not merely enough to be proficient in the biology of a system, but we are now learning that we have to utilize engineering, mathematics and computer science to understand the complexity that underlies biology. Here we utilize transcriptomics in multiple contexts. To study the underlying disease mechanism of progressive microcephaly and intellectual disability as it pertains to loss-of-function of THOC6, in collaboration with Dr. Ashleigh Schaffer, I examine how mRNA export and alternative splicing is altered with Thoc6 perturbation utilizing a mouse model. Expanding into the world of single-cell transcriptomics, I address the lack of methods in the field to compare experiments. I developed an algorithm that contributed to illuminating how MECP2 perturbation underlies Rett syndrome and the heterogeneity of embryonic cardiac development.