The study, led by Dr. André Brown and the Behavioral Phenomics group at the LMS, is published in BMC Biology. It represents a step toward solving a major challenge in medicine: how to develop treatments for the thousands of rare genetic diseases that currently have none. The work builds on a previous study published earlier this year in eLife, and together they mark a shift in how we can model these diseases and test potential treatments at scale.

The rare disease paradox

Rare diseases may be individually uncommon, but together they affect millions of people worldwide. With over 7,000 known rare genetic disorders, fewer than 10% have approved treatments. One of the main obstacles? Economics.