We’ve sequenced my genome, and found a potential drug for my NF2 case
Hello, my name is Onno. As an experienced entrepreneur, I’ve spent most of my life building new companies to help improve people’s lives.
A few years ago, I was diagnosed with a rare genetic disease called neurofibromatosis type 2 (NF2), which affects 1 in 40,000 people worldwide. Ever since my diagnosis, I have been looking for a way to help fix it. But there are many challenges:
- It’s a rare disease, which means there are limited resources for research compared to ‘bigger’ diseases
- Even though there are exciting new technologies out there that might help, many of them are not mainstream yet
- There are lots of inefficiencies in the way we collaborate and share data
Fortunately, some friends of mine are working on genomic research. After one of my tumors was removed, we sequenced and analyzed the genome of my tumor and my blood.
We identified a few (new) mutations that likely contribute to the growth of my tumors, one of which outside the regular “NF2-gene”. We were also able to identify a drug that may be effective in targeting the affected genes. We’ve still got a lot of work to do, but I am excited about the potential for these technologies. At least it could help us to better understand what drug an individual patient should try.
I’ve come to realize that if everybody with NF2 could sequence and analyze their genome, we have an opportunity to pool our resources, share our information, and discover new patterns of data that would accelerate research. If we share our data, we can find better (and more personalized) treatment options. Eventually, we may even be able to find a cure.
My colleagues and I are starting a new project to accelerate research of NF2 and other rare conditions, representing the patient’s needs to find better treatment options faster.
We need people to express an interest in providing their genetic data, once we’re ready to get to work. All we ask right now is for you to provide your contact information saying you’re interested in participating and providing your genetic data. Please contact me if you want to chat or have any questions: onno@nf2project.com.
Remember — you’re not in this alone. An estimated 175,000 people suffer from NF2. If we all came together to tackle this problem together, just imagine what we could do!
If you are a patient or representative, go to nf2project.com to sign up
Thank you in advance for your support. Onno
