- RareLink was originally founded on the Harvard Rare Disease Hackathon 2025, sponsored by NORD. Our team uses deep learning to analyze genetic interactions in rare diseases.
- The RareLink project uses deep learning to uncover genetic interactions—specifically epistasis—linked to rare diseases, which traditional methods often miss. By comparing neural activations from DNA sequences containing single and paired variants, the team quantifies epistasis and interprets functional effects, such as loss or gain of protein function. They demonstrate their method on the LMNA gene, associated with congenital muscular dystrophy, revealing how one variant can repress another’s effect. Future directions include improving mechanistic interpretability and building clinician-friendly tools to aid diagnosis and therapeutic development.
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