# 113. The Secret Weapon In The Fight Against Rare Diseases

- Show: [The Next Byte Podcast](https://hardwarepodcasts.com/podcast/the-next-byte-podcast)
- Published: 2023-03-14
- Length: 24m
- Page: https://hardwarepodcasts.com/podcast/the-next-byte-podcast/2023-03-14-113-the-secret-weapon-in-the-fight-against-rare-diseases
- Listen: https://the-next-byte-wevolver.simplecast.com/episodes/113-revolutizing-rare-disease-diagnosis-via-ai-BNGcOLlX

## Summary

Hosts Daniel and Forbode discuss a Stanford Human Centered Artificial Intelligence Group study that uses an AI model called PopDX to detect rare diseases in the UK Biobank despite incomplete patient data. The hosts explain how the algorithm infers missing diagnosis codes with high precision, improving characterization of unseen diseases by 218% and rare diseases by 151% compared to existing algorithms. They also highlight the researchers' acknowledgment of demographic biases in the training data and the potential for this technology to accelerate medical research and treatment for rare conditions.

## Chapters

- [0:00](https://hardwarepodcasts.com/podcast/the-next-byte-podcast/2023-03-14-113-the-secret-weapon-in-the-fight-against-rare-diseases#t=0) Introduction and Sponsor Read
- [2:55](https://hardwarepodcasts.com/podcast/the-next-byte-podcast/2023-03-14-113-the-secret-weapon-in-the-fight-against-rare-diseases#t=175) Biobanks and the Problem of Incomplete Data
- [7:12](https://hardwarepodcasts.com/podcast/the-next-byte-podcast/2023-03-14-113-the-secret-weapon-in-the-fight-against-rare-diseases#t=432) The PopDX Algorithm and Multi-label Classification
- [13:33](https://hardwarepodcasts.com/podcast/the-next-byte-podcast/2023-03-14-113-the-secret-weapon-in-the-fight-against-rare-diseases#t=813) Performance Metrics and Clinical Impact
- [18:46](https://hardwarepodcasts.com/podcast/the-next-byte-podcast/2023-03-14-113-the-secret-weapon-in-the-fight-against-rare-diseases#t=1126) Demographic Bias and Future Work
- [21:38](https://hardwarepodcasts.com/podcast/the-next-byte-podcast/2023-03-14-113-the-secret-weapon-in-the-fight-against-rare-diseases#t=1298) Episode Recap and Outro

## Topics

- [AI & machine learning](https://hardwarepodcasts.com/topic/ai-and-machine-learning)
- [Debugging & failure analysis](https://hardwarepodcasts.com/topic/debugging-and-failure-analysis)

## Most relevant to

large enterprises

## Mentioned

- Mouser Electronics (company)
- UK Biobank (other)
- PopDX (other)
- Stanford Human Centered Artificial Intelligence Group (company)
- Lou Young (other)
- Shen Wang (other)
- Russ Altman (other)

## Related episodes from other shows

- [HIBT Lab! Immunai: Noam Solomon](https://hardwarepodcasts.com/podcast/how-i-built-this/2022-12-22-hibt-lab-immunai-noam-solomon) (How I Built This)

## Citing this page

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