TED Talks Daily The world's rarest diseases — and how they impact everyone | Anna Greka
12 snips
Sep 28, 2023 Physician-scientist Anna Greka reveals how her team is solving the mysteries of rare genetic diseases through advanced technologies. She shares a poignant story of a family's quest for answers that led to discoveries linked to kidney disease. The conversation highlights the urgent need for innovative treatments and the role of patient advocacy in research. By addressing these rare conditions, Greka illustrates how breakthroughs can pave the way for precision therapies that may ultimately benefit millions.
AI Snips
Chapters
Transcript
Episode notes
The Nelson Family Tragedy
- Roscoe Nelson, a Utah surgeon, died from kidney failure at 43, a condition affecting his family for generations.
- Geneticists later identified a single DNA mutation in the MUK1 gene as the cause.
Rare Diseases, Broad Implications
- Studying rare genetic diseases like Roscoe Nelson's offers insights into fundamental human cell biology.
- This can lead to treatment opportunities for many other diseases.
Molecular Sleuthing
- Hypothesis-driven science, aided by modern tools, revealed the MUK1 mutation's mechanism.
- The mutated MUK1 gene creates a misshapen protein that accumulates inside cells.