Related Experiment Video
Updated: May 7, 2026

Conducting Miller-Urey Experiments
Published on: January 21, 2014
In conversation with Małgorzata Kosla.
Małgorzata Kosla1, Hajrah Khawaja2
1PACS2 Research Foundation, Warsaw, Poland.
Patient advocacy is crucial for ultrarare diseases like PACS2 syndrome. Parent-led foundations drive research and collaboration to find treatments for this severe neurodevelopmental disorder.
Area of Science:
- Genetics
- Neuroscience
- Rare Diseases
Background:
- PACS2 syndrome is an ultrarare neurodevelopmental disorder.
- It is caused by de novo pathogenic mutations in the PACS2 gene.
- Characterized by epilepsy, developmental delay, and cerebellar dysgenesis, with ~32 cases documented.
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