Zebra-Llama: A Context-Aware Large Language Model for Democratizing Rare
  Disease Knowledge
Authors: name: Karthik Soman, name: Andrew Langdon, name: Catalina Villouta, name: Chinmay Agrawal, name: Lashaw Salta, name: Braian Peetoom, name: Gianmarco Bellucci, name: Orion J Buske

Rare diseases present unique challenges in healthcare, often suffering from
delayed diagnosis and fragmented information landscapes. The scarcity of
reliable knowledge in these conditions poses a distinct challenge for Large
Language Models (LLMs) in supporting clinical management and delivering precise
patient information underscoring the need for focused training on these 'zebra'
cases. We present Zebra-Llama, a specialized context-aware language model with
high precision Retrieval Augmented Generation (RAG) capability, focusing on
Ehlers-Danlos Syndrome (EDS) as our case study. EDS, affecting 1 in 5,000
individuals, exemplifies the complexities of rare diseases with its diverse
symptoms, multiple subtypes, and evolving diagnostic criteria. By implementing
a novel context-aware fine-tuning methodology trained on questions derived from
medical literature, patient experiences, and clinical resources, along with
expertly curated responses, Zebra-Llama demonstrates unprecedented capabilities
in handling EDS-related queries. On a test set of real-world questions
collected from EDS patients and clinicians, medical experts evaluated the
responses generated by both models, revealing Zebra-Llama's substantial
improvements over base model (Llama 3.1-8B-Instruct) in thoroughness (77.5% vs.
70.1%), accuracy (83.0% vs. 78.8%), clarity (74.7% vs. 72.0%) and citation
reliability (70.6% vs. 52.3%). Released as an open-source resource, Zebra-Llama
not only provides more accessible and reliable EDS information but also
establishes a framework for developing specialized AI solutions for other rare
conditions. This work represents a crucial step towards democratizing
expert-level knowledge in rare disease management, potentially transforming how
healthcare providers and patients navigate the complex landscape of rare
diseases.