In October, Ethan, Nina and I attended the 2018 Global Genes RARE Patient Advocacy Summit, held in Irvine, CA. This was the 7th annual gathering of rare disease patients, advocates, and researchers, and the largest gathering of the rare disease community worldwide. This post recaps my time at the 2018 Global Genes Summit, and the many ways in which the rare disease community inspires scientists like me to work toward cures.
2018 Global Genes Summit speakers
The keynote address opening the 2018 Summit was by Rachel Callander, a professional photographer and mother of Evie, who had a rare genetic disorder and passed away when she was just two and a half years old. By the end of the keynote address, there was not one dry eye in the audience. Rachel’s talk made me realize how important it is to use positive and informative language when talking to rare disease families.
Beyond the keynote address, the 2018 Global Genes Summit featured over 100 speakers covering topics from living with a life-altering condition to building a disease community, and science and technology innovations. Among them was Ethan’s presentation, titled “Rare Research Resources: Animal models and 3D Engineered Tissues”, where he discussed using animal models in finding therapeutics for rare diseases.
Another speaker, Danilo Tagle, of the National Center for Advancing Translational Sciences (NCATS), discussed how 3D-engineered tissues – such as tumor-on-a-chip, lung-on-a-chip and, eventually, “you”-on-a-chip – could be developed and used in finding personalized therapeutics. This approach is complementary to Perlara’s, since we characterize our hits in additional models beyond the model organisms.
Nina and me at the 2018 Global Genes Summit
Engaging with the rare disease community
Unlike previous years, this year Perlara had a booth in the Exhibits section. People at different stages of their journey toward finding a cure stopped by our booth. Some had just been diagnosed with a rare disease, whereas others were working with patient advocacy groups and trying to find other families affected by the same disease. Some were in the process of raising funds, and trying to find out what solutions are available, and others were CROs helping in clinical trials.
Talking with patients, families and advocates was a great experience for me, since I’m mostly working inside the lab generating data. Meeting them gave me an even clearer sense of purpose as to why we conduct even the smallest of the small experiments, ultimately, trying to find a therapeutic as soon as possible.
Nina at the Perlara booth
One of the conversations that stuck with me was with a father whose child was diagnosed with a rare disease. After explaining what we do at Perlara, I asked what stage they were at, and he responded that they were trying to find more families that are affected by the same disease. He then asked how many families we need to start working on their disease. I was happy to tell him that at Perlara, we don’t need a certain number of patients to start working on a new disease. We would start with one patient, and find a therapeutic that could work in the patient’s specific mutation.
Model organism stickers
Meeting our partners
Working at the bench, I mostly only get to know our collaborators’ names, and who we are finding a cure for. I don’t necessarily get to meet them. So, it was a great to meet some of our current collaborators. It was a pleasure talking with Steven Laffoon from Wylder Nation, with whom we are collaborating on a PerlQuest to cure Neimann-Pick Type A (NPA). Equally great was meeting Linda Martin from Mission:Cure, the organization we are collaborating with on our CFTR-related Pancreatic PerlQuest.
“Share your rare story”
Not only did I have an opportunity to meet with current (and possible future) collaborators, but I was also inspired by the many projects bringing the rare community together. On both conference days, the Strangers Project had a beautiful set up just outside the reception area. The Strangers Project is a collection of true stories, written anonymously in the form of journal entries, answering one question: “What’s it like being you?” The displayed entries were written onsite, by people attending the Summit.
The Strangers Project journal entries by attendees at the 2018 Global Genes Summit
At the end of the second day, the organizers put up a wall full of drawings. These were “silhouette art” – tracings of the drawer’s face – filled with information on their rare disease experience. With “Share your rare story” and “Art is good” as the slogans at the top and bottom of each page, attendees had a chance to express how their rare disease – or their roles as caretakers or advocates – has shaped their identity, without necessarily defining it.
Silhouette art by Summit attendees
Back to the lab
The 2018 Global Genes Summit was a moving as well as eye-opening experience for me personally, and a testament to the power of community. It was my very first time at the Global Genes Summit, and I’m eagerly awaiting the next one. Until then, it’s back to the lab for me – with renewed inspiration to find cures to the diseases were working on. See you in September 2019, in San Diego!