Optimizing Rare Disease Patient Matching with Large Language Models

We present RepLLaMA, a neural ranking model for optimizing patient matching in rare disease communities. Using data from Unrare.me consisting of over two thousand profiles and over ten thousand ratings, our bi-encoder architecture maps profiles to 4096-dimensional vectors, enabling efficient similarity computations. The system processes unstructured symptom descriptions and structured responses, incorporating expert-guided LLM enhancements. Results show Top-10 Recall of 49.36\% $(\pm 2.03)$, surpassing baselines while maintaining generalization. The implementation provides a scalable solution for rare disease patient matching, addressing computational complexity challenges.

  • Published in:
    2024 IEEE International Conference on Big Data (BigData)
  • Type:
    Inproceedings
  • Authors:
    Berger, Armin; Bashir, Ali Hamza; Berghaus, David; Mowmita; Afsan, Nazia; Grigull, Lorenz; Fendrich, Lara; Hogl, Henriette; Ernst, Gundula; Schmidt, Ralf; Bascom, David; Lagones, Tom Anglim; Deuber, Tobias; Bell, Thiago; Lubbering, Max; Sifa, Rafet
  • Year:
    2024
  • Source:
    https://doi.ieeecomputersociety.org/10.1109/BigData62323.2024.10910113

Citation information

Berger, Armin; Bashir, Ali Hamza; Berghaus, David; Mowmita; Afsan, Nazia; Grigull, Lorenz; Fendrich, Lara; Hogl, Henriette; Ernst, Gundula; Schmidt, Ralf; Bascom, David; Lagones, Tom Anglim; Deuber, Tobias; Bell, Thiago; Lubbering, Max; Sifa, Rafet: Optimizing Rare Disease Patient Matching with Large Language Models, 2024 IEEE International Conference on Big Data (BigData), 2024, https://doi.ieeecomputersociety.org/10.1109/BigData62323.2024.10910113, Berger.etal.2024b,

Associated Lamarr Researchers

Photo. Portrait of David Berghaus.

Dr. David Berghaus

Postdoctoral Researcher NLP to the profile
Max Lübbering

Dr. Max Lübbering

Scientist NLP to the profile
Prof. Dr. Rafet Sifa

Prof. Dr. Rafet Sifa

Principal Investigator Hybrid ML to the profile