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TED Talks Daily
The world's rarest diseases — and how they impact everyone | Anna Greka
Sep 28, 2023
Physician-scientist Anna Greka investigates rare genetic diseases using advanced technology to solve medical mysteries. She explains how her team decodes the secrets of our cells and how this work could help develop precision treatments for millions of people worldwide. Topics discussed include a case study of a family affected by a rare genetic disease, the genetic mutation behind kidney failure, and the link between toxic proteinopathies and various diseases.
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Quick takeaways
- Hypothesis-driven science and modern tools helped researchers uncover the root cause of a deadly kidney disease and identify a drug-like compound that could potentially treat multiple disorders caused by toxic protein accumulation.
- Studying a single rare disease led to unexpected insights into the inner workings of human cells and revealed connections to other disorders, potentially offering insights into the treatment of more than 50 disorders affecting different parts of the body.
Deep dives
Unlocking the Secrets of a Deadly Mutation
Researchers identified a mutation in the Mach 1 gene responsible for a deadly kidney disease that affected multiple generations of a family. The mutation led to a misshapen mutant protein that accumulated inside cells, causing their death and resulting in kidney failure. By using hypothesis-driven science and modern tools, researchers were able to analyze thousands of images and uncover the root cause of the disease. They also discovered a drug-like compound that could remove the mutant protein, offering hope for potential treatments for not only this kidney disease but also other disorders caused by toxic protein accumulation.
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Discover
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