Transcripta Bio

BlueYard Capital
4 min readNov 23, 2020

When we think of rare diseases, we tend to believe that they only impact a small portion of the population. But collectively, about 400 million people worldwide, many of them children, are suffering from rare diseases. With the widespread adoption of genetic testing, many more are likely to be diagnosed in the coming years. Yet, despite accelerating progress in treatments and even potential cures such as gene therapies, only 5% of rare diseases have approved therapies.

These statistics can be numbing, but speaking directly with patients and their community painfully illustrates how their lives have been turned upside down by a single diagnosis: parents see their child struggle with development disorders, family members quit their jobs to take care of loved ones, patients are educating themselves to understand what the cryptic code they received as a diagnosis means, and the entire community is urgently looking for a cure to its specific rare disease.

Too often, both our private and public institutions fail these patients: Doctors have no treatments for many rare diseases yet; despite regulatory and economic incentives, many rare diseases are too small to be of commercial interest for pharma and biotech; academic research with its incentives to publish and protect IP is often misaligned with patients’ interest in speed and transparency. While patient advocacy groups are often incredibly effective at creating close-knit communities, raising awareness, and funding, patients are largely on their own when it comes to the complex process of drug discovery and development, with no experts to guide them. Instead, even strong advocacy groups are stuck in this R&D misalignment, as a bouncing ball between academic research and pharma, and dependent on researchers willing to take up their case. As a result, a frequent rare disease scenario is that promising cell lines, drug re-purposing analyses, datasets and ideas are stuck in some lab’s basement because a single party does not have enough economic incentives to make it worthwhile, and does not have the time to prioritize a project or already sold the commercial rights to patients’ data to a third party, rendering it unavailable to further research. Meanwhile, patients are running out of time.

When Transcripta Bio (formerly Rarebase) co-founders Onno Faber and Omid Karkouti met in early 2020, they knew from personal experience that what the rare disease community was lacking was a partner who is fully aligned with patients’ single most urgent interest: getting to a treatment as fast and reliably as possible, not contingent on its novelty or ability to be commercialized. Having experienced firsthand the incredible focus and energy of patient organisations in building communities and in fundraising, Onno and Omid also saw where patient organisations would benefit from support the most: designing and executing on a therapeutic roadmap. Together, they set out to build a company that would empower patient organisations to act like biotech companies in their own right.

Transcripta Bio empowers patient organisations to take control over and facilitate breakthrough drug discoveries for rare diseases. The company’s platform provides patient organisations at any stage with the tools to orchestrate a comprehensive research strategy, decide on resource allocation and accelerate execution by outsourcing early R&D steps such as collecting and banking tissue samples, creating cell lines and model organisms, running drug screens or matching patients with existing biotech assets.

Our Thesis

By providing its platform to patient organisations, Transcripta Bio empowers them to become masters of their own destiny — independent of interests from third party institutions — and ultimately to seed the nuclei for new therapeutic assets and companies. Over time, being at the center of various R&D streams will enable Transcripta Bio to aggregate data across disease clusters, further improving their services to patient organisations and hopefully leading to the generation of novel therapeutic insights and IP.

Eventually, we may all benefit from the pioneering work enabled by the rare disease community: there are many examples of insights generated by studying rare diseases that were later found to be applicable to common diseases. Because of the urgency and accelerated clinical pathway, rare diseases can also be the testing ground for groundbreaking new technologies, such as cell and gene therapies, before they can be applied at large.

We could not imagine a better team to support rare disease patient groups than Omid and Onno, who we previously worked with in another investment and are happy to be able to continue the relationship with a team that brings years of experience as founders, operators and patient advocates, as well as close ties with the rare disease community. Together, we hope that Transcripta Bio and patient organisations can kickstart a pipeline of promising therapies, for one or for many.



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