Microsoft Research Blog

Using AI to assist in rare disease diagnosis 

September 22, 2025 | Mandi Hall and Ashley Conard
New research from Microsoft, Drexel, and the Broad explores how generative AI could support genetic professionals in rare disease diagnosis.

Recent Posts

  1. The image features four white icons on a gradient background that transitions from blue on the left to green on the right. The first icon is a network or molecule structure with interconnected nodes. The second icon shows a stylized person in front of a computer screen. The third icon shows an organization tree with one main node and three nodes branching out side by side below it.

    Technical approach for classifying human-AI interactions at scale 

    July 23, 2025

    Semantic Telemetry helps LLMs run efficiently, reliably, and in near real-time. Learn about the engineering behind that system, including the trade-offs and lessons learned along the way—from batching strategies to token optimization and orchestration.

  2. Research Focus: April 23, 2025

    Research Focus: Week of April 21, 2025 

    April 23, 2025

    In this issue: our CHI 2025 & ICLR 2025 contributions, plus research on causal reasoning & LLMs; countering LLM jailbreak attacks; and how people use AI vs. AI-alone. Also, SVP of Microsoft Health Jim Weinstein talks rural healthcare innovation.

  3. A digital illustration of a person with a contemplative expression, resting their chin on their hand. The top of the person's head is open, revealing a white bird standing inside. The seagull is holding a worm in its beak, feeding the baby birds. The background is blue, and the words "TOOLS FOR THOUGHT" are written across the image in white letters.

    The Future of AI in Knowledge Work: Tools for Thought at CHI 2025 

    April 18, 2025

    Join us at CHI 2025 to explore how AI systems can be used as Tools for Thought as we reimage AI’s role in human thinking. Learn about new research, prototypes, and a workshop on designing AI that supports critical thinking, decision-making, and creativity.

  4. Research Focus: April 09, 2025

    Research Focus: Week of April 7, 2025 

    April 9, 2025

    In this issue: We introduce a new dataset designed to assist renewable energy infrastructure planners, a new method for denoising MRI imagery, and an AI tool for analyzing distant galaxies. Check out our latest research and other updates. 

  5. Research Focus -- Week of March 24

    Research Focus: Week of March 24, 2025 

    March 26, 2025

    In this issue, we examine a new conversation segmentation method that delivers more coherent and personalized agent conversation, and we review efforts to improve MLLMs’ understanding of geologic maps. Check out the latest research and other updates.

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    Research Focus: Week of October 28, 2024 

    November 1, 2024

    New Research | FLASH: Workflow automation agent for diagnosing recurring incidents; METAREFLECTION: Learning instructions for language agents using past reflections; Boosting LLM training efficiency through faster communication between GPUs; and more.

  7. Research Focus: August 5, 2024

    Research Focus: Week of August 12, 2024 

    August 14, 2024

    In this issue: Research Forum Ep. 4 explores multimodal AI. Registration is now open; Surveying developers’ AI needs; SuperBench improves cloud AI infrastructure reliability; Virtual Voices: Exploring factors influencing participation in virtual meetings.

  8. Research Focus: July 22, 2024

    Research Focus: Week of July 29, 2024 

    July 31, 2024

    In this issue: Skeleton Posterior-guided OpTimization (SPOT) exhibits potential in various causal discovery tasks; Using visual imagery for an EEG-based brain–computer interface; Developing human-centered AI systems to assist creative professionals.

  9. Research Focus: June 24, 2024

    Research Focus: Week of June 24, 2024 

    June 26, 2024

    In this issue: RENC makes 5G vRAN servers more energy efficient; CoExplorer uses AI to keep video meetings on track; Automatic bug detection in LLM-powered text-based games; MAIRA-2: Grounded radiology report generation.

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