In this episode of Research Renaissance, presented by the Karen Toffler Charitable Trust, host Deborah Westphal explores the intricate world of genetic research with Dr. Valerie Arboleda.

Dr. Arboleda, an associate professor at the David Geffen School of Medicine at UCLA and a 2023 Toffler Scholar, shares her insights into the genetic architecture of rare, monogenic diseases, and common complex diseases.

Key Topics Covered:

Understanding Genetic Diseases:
Dr. Arboleda explains the difference between monogenic diseases, which can be traced to mutations in a single gene, and common complex diseases, which involve multiple genetic contributors.

Research Approach:
The conversation delves into how Dr. Arboleda's lab identifies and analyzes genetic variants contributing to diseases, highlighting the importance of understanding both monogenic and complex genetic patterns.

Clinical Implications:
Dr. Arboleda discusses the clinical approach to genetic testing and counseling, emphasizing the challenges and breakthroughs in diagnosing and managing genetic disorders.

Scientific Challenges:
The discussion explores the hurdles in linking genetic data to clinical phenotypes and the potential of biobanks and artificial intelligence in overcoming these obstacles.

Future of Genetics:
Looking ahead, Dr. Arboleda expresses hope for advancements in genetic therapies, particularly for rare pediatric syndromes, and discusses the impact of genetics on understanding and treating various diseases, including cancers linked to genetic mutations.

Dr. Arboleda shares her journey from medicine to genetics research, revealing her passion for both disciplines and the synergistic benefits of combining clinical practice with genetic research. She underscores the importance of collaborative efforts in advancing the field and the role of new technologies in enhancing genetic diagnostics and treatments.

This episode provides a comprehensive look at the challenges and future directions of genetic research, particularly in understanding the complex interactions between our genes and health outcomes. Dr. Arboleda's work exemplifies the cutting-edge of medical science, where genetic understanding meets clinical application.

For more insights and updates, subscribe to Research Renaissance on your favorite podcast platform and visit tofflertrust.org. Contact Dr. Valerie Arboleda to learn more about her research or explore collaboration opportunities through her UCLA profile or via her lab's website at arboledalab.org.

To learn more about the breakthroughs discussed in this episode and to support ongoing research, visit our website at tofflertrust.org.

Technical Podcast Support by Jon Keur at Wayfare Recording Co.