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@Bloomed-Health

Bloomed Health

Open-source genomics, cancer predisposition research, and agentic health tools.

Open-source research, and tools for Underresearched Issues in Health


Some of the most important questions in medicine aren't being asked because they fall between disciplines, affect too few patients, or challenge the models we already have. Bloomed Health exists to build what's missing: open research frameworks for mechanistic paradoxes, clinical tools for conditions that lack them, and agentic AI that makes expert-level reasoning accessible to anyone who needs it.

We work across genomics, cancer predisposition, endometriosis and adenomyosis, stroke and vision loss, comparative oncology, and chronic illness, wherever the gap between what patients experience and what the research infrastructure provides is widest.

Everything we build is open source. If it helps one researcher ask a better question or one patient understand what's happening to them, it was worth making.

Projects

Genomics & cancer predisposition

POLE Frameshift — Research framework for POLE c.138del (p.Leu46Phefs*8), an ultra-rare frameshift variant that truncates the POLE catalytic subunit at residue 54 yet produces a clinical phenotype indistinguishable from classical PPAP (TMB >100 mut/Mb). Five candidate mechanistic models, prioritized experimental approaches, therapeutic strategy, and full literature synthesis. Resolving this paradox could restructure how POLE truncation variants are classified across clinical genetics.

Cancer Predisposition Variant Analyst — Claude Code skill for ultra-rare variant interpretation in cancer predisposition genes. Resolves genotype–phenotype paradoxes, assembles ACMG/ClinGen evidence, and maps mechanism to therapy. 72 curated references (2024–2026). Includes a worked example: POLE truncation producing PPAP against consensus.

Gynecologic health

Rate of Growth Estimator — Evidence-based web application for estimating growth patterns of benign gynecologic masses using validated clinical models and current research data. Designed for patients and clinicians navigating conditions like fibroids and endometriomas where growth trajectory directly informs treatment decisions.

Stroke & vision

Blindness Visualizer — A comprehensive tool that interprets multiple visual impairments as layered visual overlays, making the subjective experience of vision loss communicable to clinicians, caregivers, and the general public. (In progress.)

Coming soon

  • Comparative oncology — cancer biology and shared predisposition pathways
  • Agentic research tools — AI workflows for literature synthesis, variant interpretation, and experimental design
  • Endometriosis/adenomyosis research frameworks

Focus areas

Domain What we're building
Genomics Research frameworks and AI tools for ultra-rare variant interpretation
Cancer predisposition Mechanistic models for variants that defy current classification
Endometriosis & adenomyosis Clinical tools and research frameworks for underserved conditions
Stroke & vision loss Visualization and communication tools
Comparative oncology Cross-species cancer research infrastructure
Agentic AI for research Tools that make expert-level clinical reasoning accessible and reproducible

Philosophy

Build what doesn't exist. If a tool, framework, or dataset would help patients or researchers but nobody has made it, that's what we work on.

Open by default. Every project is shared under permissive licenses. Science that stays behind closed doors helps no one.

Patient-driven, research-grade. The people closest to a disease often understand its gaps better than anyone. We translate that understanding into rigorous, citable work.

Bridge disciplines. The most important discoveries happen at the boundaries — between genomics and immunology, between human and veterinary oncology, between clinical observation and mechanistic biology.

Contributing

We welcome contributions across all projects. Whether you're a bioinformatician, clinician, patient-researcher, or developer, there's work to be done. See individual repository READMEs for specific contribution guidelines, or open an issue to start a conversation.

License

Individual projects specify their own licenses. Research frameworks are typically shared under CC BY 4.0. Software tools use MIT or equivalent permissive licenses.


Bloomed Health is an open-source research organization. Nothing here constitutes medical advice.

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  1. POLE-Frameshift POLE-Frameshift Public

    Research framework for POLE c.138del (p.Leu46Phefs*8) — an ultra-rare frameshift variant causing PPAP with ultra-hypermutated tumor phenotype (TMB >100 mut/Mb). Mechanistic models, therapeutic stra…

    TeX 2

  2. cancer-predisposition-variant-analyst cancer-predisposition-variant-analyst Public

    Claude Code skill for ultra-rare variant interpretation in cancer predisposition genes. Resolves genotype-phenotype paradoxes, assembles ACMG/ClinGen evidence, maps mechanism to therapy. 72 referen…

    1

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