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Accelerating Rare Disease Diagnosis

RareSight

Accelerating Rare Disease Diagnosis

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When answers are hard to find, RareSight helps you move forward. Our proprietary system offers fast, guideline-backed insights to support your decisions in rare and complex cases — so you can focus on your patients, not the uncertainty.

Our Story

RareSight grew out of years spent working in rare disease therapy development, where we saw a recurring pattern: patients waiting far too long for answers. Despite the dedication of clinicians, the sheer complexity and rarity of these conditions often makes early recognition incredibly difficult. With backgrounds in biochemistry, medicine, and pharma, we started RareSight to build tools that can quietly support clinicians behind the scenes — making rare feel a little more recognizable.

Meet The Team
350m
Suffering from Rare Diseases worldwide

350m

Suffering from Rare Diseases worldwide

6-8

Years on average diagnostic odyssey (median time from first onset of symptoms to confirmed diagnosis)

7.6x

Higher pre-diagnostic costs. Rare Disease patients average 3.1 hospitalizations and 15 genetic test before referral, versus 0.5 and 0.3 in matched controls

70%+

Clinical sites screening failures delaying “1st patient in” by months and costing 0.5-1.5m per study.

Mission & Vision

Our mission is to accelerate the diagnosis of rare diseases by equipping clinicians with AI-powered tools that support earlier recognition and smarter decision-making — without adding complexity to their workflow.

We envision a world where no patient waits years for a diagnosis simply because their condition is rare. By bridging biomedical science with intelligent technology, we aim to make rare disease diagnosis faster, more accurate, and accessible across all levels of care.

Rare Sight Mission and Vision
At RareSight, our AI technology is at the forefront of diagnostic excellence. We offer cutting-edge solutions that assist clinicians in identifying rare diseases more efficiently and accurately, ultimately leading to better patient care and outcomes.

Our Values

Patient focus

Behind every diagnosis is a person shaped by uncertainty. We build with empathy to honor their experiences and support those who care for them.

Collaboration

Solving complex problems takes more than code — it takes people. We work closely with clinicians and researchers to create tools that truly fit into real-world care.

Patient-Centered Innovation

Innovation means nothing if it doesn’t reach the right people. We design technology that is intuitive, clinically meaningful, and built to improve lives.

Behind every diagnosis is a person shaped by uncertainty. We build with empathy to honor their experiences and support those who care for them.

Looking Ahead

Our current focus is on high-impact rare diseases where early diagnosis can significantly change outcomes. As we grow, we aim to expand our database, deepen our algorithms, and integrate seamlessly across care settings — from primary care to specialist centers.

Built for the Front Line

RareSight is designed with and for clinicians. We collaborate closely with doctors, data scientists, and healthcare systems to ensure our tool is clinically relevant, technically robust, and easy to use. Because in real-world care, simplicity and trust matter as much as accuracy.

Our unique approach

Our proprietary system operates quietly in the background of a clinician’s workflow, using structured and unstructured patient data to detect rare disease signals. It’s designed to:

  • Recognize subtle diagnostic patterns across symptoms, labs, history, and more

  • Surface possible rare diseases that match the profile — even if they’re not top-of-mind

  • Provide explainable insights, so clinicians understand why a suggestion was made

  • Integrate with existing systems to minimize friction and support adoption

The goal is not to replace clinical judgment — it’s to give healthcare professionals an extra layer of insight when it’s needed most.

Our Solution

Making Rare Diagnoses Less Rare

RareSight is developing an AI-powered decision support tool designed to help clinicians identify rare diseases earlier and with greater confidence. Our technology integrates biomedical data and clinical patterns to highlight possible diagnoses that may otherwise be overlooked in day-to-day practice.

Why This Matters

Diagnosing rare diseases is incredibly difficult — not because clinicians aren’t skilled, but because these conditions are, by nature, uncommon and complex. Many present with vague, overlapping symptoms, leading to diagnostic delays that can stretch across years. By supporting clinicians with intelligent, pattern-based suggestions, RareSight helps bring rare diseases into view sooner.

Get Involved
Our Solution: Making Rare Diagnoses Less Rare

Built into your workflow

RareSight integrates into hospital workflows and reads existing records automatically. It does not replace the clinician — it makes rare patterns visible, explains its reasoning, and guides the doctor in this critical, time-sensitive moment.

Reads records, finds rare patterns — ingests structured and unstructured hospital data; no manual data entry required.

Guideline-matched evidence — every suggestion is traced to published clinical criteria and citations, not a black-box score.

Transparent confidence per condition — ranked differential with supporting evidence, contradictions, and high-yield next tests.

Enterprise-ready from day one — secure, auditable, EU-hosted, with a defined MDR medical-device certification path.

CRO / trial screening layer — pre-screens site records to surface eligible candidates, cutting screen-fail rates from ~70% to ~50%.

Built into your workflow: RareSight integrates into hospital workflows and reads existing records automatically. It does not replace the clinician — it makes rare patterns visible, explains its reasoning, and guides the doctor in this critical, time-sensitive moment.

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Image by Luke Jones
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