Pablo Botas

VP Of Product, Rare & Inherited Diseases at SeqOne

A Coruña, Galicia, Spain
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Summary

👤
Senior
🎓
Top School
Pablo Botas is a product leader and scientist with nine years of experience building patient-centric precision medicine solutions for rare and inherited diseases. Currently VP of Product at SeqOne, he has led product strategy and high-performing teams at Nostos Genomics and founded initiatives like Foundation 29 and Horizontec to empower patients and young innovators. He blends deep technical rigor from a PhD-trained background in medical physics and GPU-accelerated Monte Carlo simulation with hands-on experience shipping AI-driven diagnostic tools such as the open-source Dx29 platform. Pablo is drawn to scientifically challenging problems and creating creative, collaborative environments that multiply collective potential. He pairs a research-first mindset with practical product execution, uniquely positioning him to translate complex genomics and clinical data into regulatory-grade real-world evidence and patient-facing tools. Based in A Coruña, he brings a rare mix of academic depth, startup leadership, and civic-minded projects that amplify patient voices in research.
code9 years of coding experience
job8 years of employment as a software developer
bookDoctor of Philosophy - PhD, Doctor of Philosophy - PhD at Harvard Medical School - Massachusetts General Hospital
bookBachelor of Science (B.Sc.), Physics, Bachelor of Science (B.Sc.), Physics at Universitat Autònoma de Barcelona
bookDoctor of Philosophy (PhD), Physics, Doctor of Philosophy (PhD), Physics at Heidelberg University
bookMaster of Science (M.Sc.), Medical Physics, Master of Science (M.Sc.), Medical Physics at University of Valencia
languagesEnglish, Spanish
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Github Skills (68)

ontology10
owl10
genes10
candidate10
semantics10
bioinformatics10
monarchinitiative10
ontologies9
pii9
azure8
genomics8
semantic-web8
variants8
privacy-protection8
microsoft8

Programming languages (10)

TypeScriptJavaMakefileJavaScriptPrologPerlHTMLJupyter Notebook

Github contributions (5)

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foundation29org/RareCrowds

Feb 2021 - Jan 2022

Package to serve public and freely-available data from rare disease patients.
Contributions:39 commits, 3 PRs, 36 pushes in 11 months
patientsfreelyrare-diseaseservedisease
WGLab/phenolyzer

Feb 2019 - May 2019

phenotype-based prioritization of candidate genes for human diseases
Contributions:18 commits, 2 PRs, 3 comments in 3 months
prioritizationcandidatecandidate-genesbioinformaticsphenotype
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Pablo Botas - VP Of Product, Rare & Inherited Diseases at SeqOne