Transposable elements, once considered "junk DNA," make up half of the human genome and could hold important insights into the workings of the human brain. Patricia Gerdes, a postdoctoral researcher within the Jakobsson Research Group at Lund University, is fascinated by these elements and their unique ability to move within our genomes. With a background in transposable element research, she plans to investigate their role in human brain evolution.
"Humans share about 98% of their protein-coding genes with chimpanzees, our closest living relatives. So, it’s likely that the secrets of human brain evolution and function do not solely reside in these genes but in other parts of our genome, like transposable elements," explains Patricia Gerdes.
The human genome contains thousands of transposable element copies, and they have the capacity to act as gene regulators and contribute novel functions. To study the influence of transposable elements on the human brain, Patricia plans to employ cerebral organoids—3D mini-brains grown in the lab.
Utilizing induced pluripotent stem cells derived from blood or skin samples taken from, rhesus macaques, chimpanzees, and human donors, she will create representative mini-brain models. With this approach, Patricia can investigate the impact of transposable elements on brain development and compare differences between human and primate brains. Advancements in long-read sequencing technologies have facilitated this research by enabling precise analysis of the location and characteristics of transposable elements.
Through her research, Patricia hopes to uncover the regulatory networks underlying brain development and function, leading to a deeper understanding of healthy brain function and new avenues for exploring brain diseases. “These findings may highlight new areas for researchers to investigate more deeply the role of transposable elements in brain diseases and identify novel therapeutic targets” she notes.
With support of the MSCA postdoctoral fellowship grant, Patricia will benefit from collaborative opportunities, workshops, and events that enhance her skills and expand her network within Europe. This support will help her on her mission to uncover the role of transposable elements and advance our understanding of the human brain.
Looking ahead, Patricia aspires to continue within academic research, further exploring the evolutionary significance of transposable elements. "Establishing my own research group would allow me to delve deeper into the potential of these elements in human evolution. By gaining a deeper understanding of brain evolution and healthy brain function we can improve our understanding and treatment of brain diseases," shares Patricia.