Mutations Causing Congenital Disorders

Maria Barna is an authority on ribosomes – “life’s most ancient and spectacular molecular machines.” Ribosomes make proteins in the body. There can be a thousand different types of ribosomes in a single cell, she says, each with a specific job to do. But sometimes things go awry and ribosomes get “hijacked,” leading to disease. Barna studies these “diabolical” variations to find new therapies to treat diseases ranging from cancer and COVID to Parkinson’s. When diseases hit, it’s all about the ribosomes, Barna tells host Russ Altman on this episode of Stanford Engineering’s The Future of Everything podcast.

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Episode Reference Links:

• Stanford Profile: ​​Maria Barna

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• Episode Transcripts >>> The Future of Everything Website
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Chapters:

(00:00:00) Introduction

Russ Altman introduces guest Maria Barna, a professor of genetics at Stanford University.

(00:04:21) Origins of Ribosome Research

Maria explains why ribosomes became the focus of her work.

(00:06:14) Ribosome Function and Scale

Ribosomes’ functions and the energy required for their production.

(00:08:28) Ribosomes as Machines

How ribosomes influence which proteins are produced and when.

(00:09:48) Ribosome Regulation

The regulatory layers within ribosomes and their possible variants.

(00:14:35) Ribosomes and Disease

How ribosomal dysfunction is linked to a wide range of diseases.

(00:18:16) Ribosome Mutations and Development

Congenital disorders that can be attributed to specific ribosomal mutations.

(00:20:44) RNA vs. Protein Output

Why RNA measurements alone do not accurately predict protein levels.

(00:24:16) Designing Ribosomes for Therapy

The potential of using engineered ribosomes for target therapies.

(00:26:16) Small-Molecule Ribosome Modulators

Screening compounds that may enhance ribosome activity for treatments.

(00:28:39) Future Ribosome Profiling

Isolating individual ribosomes to understand their specific roles.

(00:30:35) Future In a Minute

Rapid-fire Q&A: scientific progress, community, and alternative career interest.

(00:34:01) Conclusion

Connect With Us:

Episode Transcripts >>> The Future of Everything Website

Connect with Russ >>> Threads / Bluesky / Mastodon

Connect with School of Engineering >>>Twitter/X / Instagram / LinkedIn / Facebook

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