By Ronni Blumenthal, Executive Director
We recently had an opportunity to spend some time chatting with Patrick Short, CEO of Heterogeneous, based in the UK. We invited him to explain his company and their mission to our families. We look forward to continued discussions about how we can collaborate. We encourage everyone who is ready to send their information to Heterogeneous also take a moment to also Enroll, Complete or Update their data in the PMS International Registry (PMSIR). We are stronger together.
By Patrick Short, CEO of Heterogeneous
Rare disorders often receive less focus from medical researchers because significant samples of patient data are difficult to find. For rare genetic diseases, in particular, most families were diagnosed with technologies that do not provide the full picture of the genetic cause. This limits our understanding of why patients with the same disorder often have different symptoms and progression, and potential for more personalised treatments.
Heterogeneous was started to address this problem by allowing groups of patients to match with researchers and industry utilising the latest genome sequencing technology. We designed Heterogeneous to be transparent about how data is shared – participants always own their data and can choose which studies they participate in.
Research can sometimes be a frustrating experience for participants who donate their time and effort, but often do not hear updates on progress for years, if at all. We are also trying to address this problem by making research a two-way street, where patients can drive research goals and receive more regular updates on progress.
We met Andy Kulina, whose daughter Olivia has Phelan McDermid Syndrome, at RAREfest in Cambridge, UK. In the weeks after the event, we worked together to create a sign-up page specific to Phelan McDermid Syndrome families on Heterogeneous.
Signing up is really simple – it takes about five minutes to provide basic information about yourself/your child that will allow us to get started matching with research partners (heterogeneous.co.uk/pms_landing).
As soon as we find a research or industry partner, you will receive an email describing the study in more detail and you will have the opportunity to join if you choose to. You will also have the opportunity to share your results from this study with the PMSF registry so the value of this work can be maximised.
We are still a small and young company, but we have seen this model succeed so far with other patient communities including muscular dystrophy and autism spectrum disorder. Our goal is to match 10,000 patients with research studies in the next year and we would love to have you be a part of it!
If you are interested in joining, you can visit: www.heterogeneous.co.uk/pms_landing
Please feel free to email email@example.com with any questions that you might have!