Probably Genetic

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Probably Genetic photo 1

What does your organisation do?

Probably Genetic has developed an AI operating system that powers the research, diagnosis, and treatment of genetic diseases. We partner with drug developers, clinical labs, and patient advocacy organisations to build the datasets and algorithms needed to unlock treatments for the 200+ million people living with genetic conditions worldwide.

One thing that people may not realise, and that continues to amaze us too, is the extraordinary depth and breadth of data patients voluntarily share through our platform. In addition to detailed personal narratives about their symptoms and diagnostic journey, many patients upload photos, videos, and medical and genetic reports. For many patients and families, this is the first time anyone has looked at the full picture of their condition in one place. That richness of multimodal data is critical for genetic disease research and is helping us build entirely new ways of identifying and understanding genetic conditions.

Probably Genetic photo 2

Why did you choose to build in Oxfordshire?

In 2015, I received a Rhodes Scholarship and moved from Cambridge to Oxford to pursue a PhD in bioinformatics. I had studied chemical engineering in Cambridge, and this scholarship gave me an opportunity to work with world-class researchers in genetics, despite having no formal background in the field. At Oxford, I joined a research group doing pioneering work in disease genetics and Whole Genome Sequencing. I got the chance to work on the UK’s landmark 100,000 Genomes Project, where my research focused on applying machine learning and bioinformatics to identify disease-causing mutations hidden among millions of genetic differences between individuals. That experience fundamentally shaped my understanding of how AI could transform genetic disease diagnosis and treatment.

What big problem are you trying to solve?

Over 200 million people worldwide are living with a genetic disease and on average wait 7 years for a diagnosis. Many will never receive one at all. Without a diagnosis, patients can’t access treatments, participate in clinical trials, or even understand the cause of their condition. At the same time, drug developers struggle to identify, reach and collect data on these patients, slowing the development of new therapies. Probably Genetic exists to close that gap: we use AI to identify patients earlier, connect them to answers faster, and build the evidence base that makes new treatments possible. The impact can be life-changing: One patient's mother described receiving a diagnosis after 32 years in just 30 days through our platform. That's the problem we're solving.

How can you support the Oxfordshire ecosystem?

We’re actively growing our team and would love to connect with people in the Oxford community who want to build the future of genetic medicine with us. We’re currently hiring for several key roles; if you’re excited about working on deeply meaningful, technically hard problems in healthcare, we’d love to connect.

Open roles:
Head of Engineering: https://jobs.ashbyhq.com/probablygenetic/0d29d677-789f-41f9-bb9d-27c247fb449a
Senior Software Engineer: https://jobs.ashbyhq.com/probablygenetic/8f428ab0-80e7-4b3d-bc91-b347e407204d
Senior Software Engineer, Data: https://jobs.ashbyhq.com/probablygenetic/23feff17-8951-4e55-b9a0-5a47ffb0f7bf

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Probably Genetic

Probably Genetic