Understanding Phenylketonuria (PKU)

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Wendy Chung is a board-certified clinical and molecular geneticist with more than 25 years of experience in human genetic disease research. In this episode, Wendy delves deep into the world of genetics by first exploring the historical landscape of genetics prior to decoding the human genome, contrasting it with what we know today thanks to whole genome and exome sequencing. She provides an overview of genetic testing by differentiating between various genetic tests such as direct-to-consumer, clinical, whole genome sequencing, and more. Additionally, Wendy unravels the genetic underpinnings of conditions such as PKU, breast cancer, obesity, autism, and cardiovascular disease. Finally, Wendy goes in depth on the current state and exciting potential of gene therapy while also contemplating the economic implications and ethical nature of gene editing.

We discuss:

• Wendy’s interest in genetics and work as a physician-scientist [2:45];
• The genetics of phenylketonuria (PKU), a rare inherited disorder [5:15];
• The evolution of genetic research: from DNA structure to whole genome sequencing [18:30];
• Insights and surprises that came out of the Human Genome Project [28:30];
• Overview of various types of genetic tests: direct-to-consumer, clinical, whole genome sequencing, and more [34:00];
• Whole genome sequencing [39:30];
• Germline mutations and the implications for older parents [45:15];
• Whole exome sequencing and the importance of read depth [50:30];
• Genetic testing for breast cancer [54:00];
• What information does direct-to-consumer testing provide (from companies like 23andMe and Ancestry.com)? [1:01:30];
• The GUARDIAN study and newborn genetic screening [1:06:30];
• Treating genetic disease with gene therapy [1:18:00];
• How gene therapy works, and the tragic story of Jesse Gelsinger [1:22:00];
• Use cases for gene therapy, gene addition vs. gene editing, CRISPR, and more [1:28:00];
• Two distinct gene editing strategies for addressing Tay-Sachs and fragile X syndrome [1:37:00];
• Exploring obesity as a polygenic disease: heritability, epigenetics, and more [1:41:15];
• The genetics of autism [1:48:45];
• The genetics of cardiovascular disease [2:01:45];
• The financial costs and economic considerations of gene therapy [2:06:15];
• The ethics of gene editing [2:12:00];
• The future of clinical genetics [2:21:00]; and
• More.

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