Unlocking the Secrets of RNA Splicing: A Journey from Discovery to Life-Saving Therapies

The world of molecular biology has been transformed by the work of two distinguished researchers - Rich Roberts and Adrian Krainer. An illuminating Originals series "RNA Splicing: From Discovery to Bedside”, produced by Underline Science, takes you on a captivating journey, shedding light on the scientific quests of these visionary scientists and the profound impact of their discoveries on the field of RNA splicing. Their revolutionary achievements have not only advanced our understanding of RNA splicing mechanisms but have also paved the way for transformative medical treatments, redefining the landscape of healthcare.

Introducing Rich Roberts and Adrian Krainer: Pioneers in RNA splicing

The series kicks off with a compelling trailer, setting the stage for a profound exploration into the lives and research of Rich Roberts and Adrian Krainer. As we navigate through the episodes, we'll witness the evolution of Roberts from a young enthusiast of mathematical puzzles to a distinguished molecular biologist. Simultaneously, we'll follow Krainer's journey from his roots in Uruguay to becoming a leading expert in therapeutic RNA splicing, making significant strides in the fight against genetic diseases.

Episode 1: How Rich Roberts became a scientist

The journey of Rich Roberts from a young boy fascinated by mathematical puzzles to a distinguished molecular biologist unfolds in Episode 1. Despite early interests in billiards and snooker, Roberts pursued chemistry at Sheffield University. A pivotal moment occurred during his Ph.D. when a book by John Kendrew inspired him to become a molecular biologist. His trajectory led him to Harvard University, where he played a crucial role in the discovery of RNA splicing.

Episode 2: The experiments leading up to the discovery of RNA splicing

In 1974, Richard Gelinas joined Roberts' laboratory, initiating experiments that led to the unexpected discovery of RNA splicing. The pursuit to understand eukaryotic promoters and the 5'-ends of Adenovirus-2 mRNAs unravelled a phenomenon that would revolutionize molecular biology. The electron microscopy experiment by Tom Broker and Louise Chow validated the discovery, revealing the intricate process of RNA splicing.

Episode 3: How Adrian Krainer became a scientist

Adrian Krainer's journey, outlined in Episode 3, takes us from his roots in Uruguay to becoming a researcher inspired by Mendel's classical genetics experiments. His scholarship at Columbia College and Ph.D. studies at Harvard University set the stage for his collaboration with Rich Roberts. In addition, Krainer's contributions to splicing machinery purification and the discovery of an RNA-binding protein mark significant advancements in the field.

Episode 4: Unexpected discovery of split genes and RNA splicing

Episode 4 revisits the central dogma of molecular biology and the unexpected discovery of split genes and RNA splicing in 1977. Adrian Krainer details the identification of components of the spliceosome, alternative splicing, and the interactions influencing splicing outcomes. This episode provides a preview of the roles of activator SRSF1 and repressor hnRNPA1, laying the groundwork for understanding diseases like spinal muscular atrophy (SMA).

Episode 5: The key differences between SMN1 and SMN2 genes and their products

In Episode 5, the focus shifts to spinal muscular atrophy (SMA). Adrian Krainer introduces the hallmarks of SMA, the SMN genes and proteins, and the key differences between SMN1 and SMN2 genes. The lecture explores the clinical characteristics of different SMA types, the role of antisense oligonucleotides, and the preclinical development of the life-saving drug, Spinraza.

Episode 6: How is the life-saving drug spinraza administered to patients by lumbar puncture

The final episode reveals the practical aspects of administering Spinraza to patients through lumbar puncture. Clinical trials, survival and motor improvements, and the groundbreaking approval of Spinraza as a disease-modifying therapy are discussed. The episode concludes with a glimpse into the transformative impact of newborn screening on SMA patients, showcasing the potential for early intervention and life-changing outcomes.

Explore the full series now

The "RNA Splicing: From Discovery to Bedside" Originals series unfolds a captivating narrative of scientific discovery and its profound implications for human health. To delve deeper into the world of RNA splicing and its impact on our everyday lives, explore the full series here for free.

Join us on this extraordinary journey of scientific knowledge and innovation!