Mother kissing her son while he sits in his carseat

As a healthcare data scientist, I look for truth in numbers. Sometimes it isn’t easy to see, but between research, analytics, and structured thinking, I believe that generating and analyzing data can unlock new truths that will improve the lives of patients and our understanding of diseases.

I’m proud to work at Ontada, a mission-driven company whose goal is to transform the fight against cancer. I work closely with our life sciences customers to use real-world data to answer some of their toughest questions in the field of oncology. The evidence we develop can be used in multiple ways to bring new therapies to market faster and better support the entire patient journey. The power of our research has impacted many patient lives – a great example is our work on avelumab, where real-world data was used for the first time in an oncology regulatory approval and helped patients with rare Merkel cell carcinoma to have new hope and better outcomes.

Recently, this mission became personal. My six-year old son, Ollie, has a rare genetic condition – so rare that it doesn’t even have a name yet. He has a mutation in his PSMC5 gene that inhibits his proteasomes, leading to an accumulation of damaged proteins. This impacts him most immediately through significant developmental delays, including a lack of speech.

Like any mom, I will do anything to help my children. Because of the work I do for Ontada, where I have helped many organizations bring novel drugs tied to specific genetic biomarkers to market, I have been able to connect the dots between treatments used in multiple myeloma, called proteasome inhibitors, and the cellular change affecting my son. As a data scientist, I know we need data, specifically deep personalized genetic information, to tell us what’s going on at a cellular level so we can better understand the mechanisms that are involved and the impact they have on the body.

Because Ollie’s condition seemed related to the proteasome inhibitor drugs I was familiar with from my work at Ontada, I had a place to start. Through persistence and a little luck, I found the researcher at Harvard who developed the first proteasome inhibitor, bortezomib, and who is also a leading expert in proteasome research. Remarkably, the research team agreed to help us better understand the impact of Ollie’s mutation on his cells and his development. We believe the challenges presented by protein accumulation in Ollie’s cells may be similar to many neurological diseases – such as Alzheimer’s and Huntington’s, where protein build-up impacts cognitive function in the brain. We have started to develop a research protocol that will help us to learn more, and hopefully, over time, positively impact the lives of patients with a wide spectrum of conditions.

This research effort will aim to understand further the cellular effects of the PSMC5 P312R mutation and how it impacts the functioning of different types of cells within the body, and on this basis, to identify genetic manipulations or drugs that may help counter its pathological consequences. We hope this effort will help to shed light on the impact this change has on Ollie’s development and future, as well as the role of the proteasome on other conditions.

To all of you out there with a family member or loved one with a rare condition, I understand your journey. Helping to improve their lives starts with research: research leads to data, which leads to insights, which leads to treatments. Ollie’s story is a real-world example of how we can drive new levels of transparency into diseases that, ultimately, can lead to healthier patients and better outcomes.

This aligns with our mission at Ontada to use our real-world data to answer the tough questions, which will lead to improved experiences for those fighting cancer. I’m proud to work at a company that puts patients first, and even more proud to be Ollie’s mom.