Episode 4: Industry Partner Perspectives

Jack Faris (00:04):

Hello and welcome to our podcast PNRI Science: Rare Disease, Real Progress. I’m Jack Faris, CEO of Pacific Northwest Research Institute, and also proud father of my co-host, Anna.

Anna Faris (00:19):

That’s me, Anna Faris, actor, producer, and yes, Jack’s daughter, which means I have had a front row seat to his science enthusiasm for quite a while.

Jack Faris (00:30):

Some might call it enthusiasm. Others might say, I’ve been known to go on a few passionate tangents about how genetics can improve lives for countless people.

Anna Faris (00:40):

Well, either way, you’ve definitely made science a big part of our lives, and I love that we get to share these conversations together, Dad.

Jack Faris (00:47):

This series was recorded at PNRI’s 2025 Rare Disease Day Symposium, an amazing day where advocates, scientists, clinicians, students, and industry leaders all came together with one goal to accelerate diagnosis, improve treatment and advanced discovery for thousands of rare diseases, and we’re sharing some of the most powerful conversations from that day.

Anna Faris (01:16):

In this episode of PNRI Science: Rare Disease, Real Progress we hear from two corporate leaders who partnered on the event, who are helping connect the dots between discovery and impact. They talk about what it means to support innovation from outside the lab and why partnerships between industry and research are key to moving things forward faster. It’s a great reminder that meaningful progress and rare disease doesn’t happen in isolation. It happens when people across sectors work together.

Fran Akoh (01:56):

My name is Fran Akoh. I’m with Ultragenyx Pharmaceutical, which is really focused on rare disease. We’re investigating different therapies for rare disease, and what I do currently cover is osteogenesis imperfecta, also known as brittle bone disease. I’m a medical science liaison, and my role is really to interact with healthcare professionals, providers, and at this stage of our pipeline, really understand patients’ journey and the challenges that physicians face. How is it that they manage this patient? Currently for osteogenesis imperfecta, there is no approved therapies and we’re investigating the first therapy, which is really going to be focused on increasing patient’s bone strength because we have to understand this disease.

Fran Akoh (02:51):

I think in medical school, the practice is you really were trained to not look for zebras because zebras are rare, but in the rare disease space, zebras do really exist. They need care just like everybody else. I think being here is just been very eye-opening. The amount of interest in the Seattle area for people with rare diseases and for advocates as well as researchers, has been great. I think the opening session was really great to be able to hear perspectives from not just only researchers, but parents who have kids with rare diseases. Being able to listen firsthand from parents who have children suffering from rare disease. I think it kind of brings everything full circle where it gives more value and more purpose to the work that we do.

Fran Akoh (03:53):

Listening to the stories brought me in tears because it’s thinking about this is your life in its entirety. It’s not for a period of time, it’s for the entire time. Sometimes it takes 5, 10, 15 years, 20 years to even get diagnosed. Some patients are actually getting diagnosed with rare diseases because your kids got diagnosed sooner, so they’re walking back genetically and realize that they’ve been living with these rare diseases their entire life. I think the one thing really, which I think this meeting brings is just being able to look in the room and see that there is a community and you’re not alone. I’m hoping what that would do is give them the strength and courage to keep fighting knowing that you’re not alone and there is more people that you don’t even know and you might never know that are interested in finding solutions for the problems that you’re dealing with.

Fran Akoh (05:02):

I think what’s exciting is really, for me, it was really encouraging the courage and strength and depth of the knowledge of families and advocacy standing forward, pushing forward going to Washington and working with politicians, working with everyone to make a difference, to pass this policy, to provide support we owe to our time to do the best that we can. Donate support with your time. You might not have anyone that you know with rare this disease, but the entire community needs you. They need your support, your voice, your donation, your time to drive this mission forward.

Anna Faris (05:48):

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Jonathan Christie (06:30):

My name is Jonathan Christie. I’m an Encounter account manager and I work for Bruker Spatial Biology. We are a company that provides spatial biology solutions for any kind of problem. We have four different platforms. The platform I represent Encounter is just a basic gene expression and proteomic expression profiler for bulk. It works pretty well with tough samples like blood serum, that kind of thing. The best example I like to give is what researchers in the oncology space see a lot of times is when there’s a tumor sample, sometimes the immune cells are able to get in and start attacking the tumor, and we call that an infiltrated tumor, and sometimes those immune cells are actually excluded. Our technology really allows you to pick out all the immune cells that are being excluded, get their gene profile, and figure out what’s different about those immune cells compared to immune cells that did infiltrate the tumor. When you take a slice of tissue, normally you just grind it up and get the expression from all of it, but with spatial, you preserve that location of the tissue of each cell within it, and you’re able to still see where things are and you can add that information as another dimension.

Jonathan Christie (07:54):

We work pretty closely with a core lab at Seattle Children’s Research Institute. They’re excited about the possibilities that spatial biology represent in terms of discovering new therapeutics and new therapeutic targets, and so we’re here really to support them and their important work here. This is probably a basic concept to most people, but I didn’t really think about the idea of grouping all rare diseases together as a cohort and thinking about it in that larger context, but working together as a network that was pretty interesting to learn about. I think just in general, people find it easy to disconnect the work in the lab from the end result, and so events like this really help pull it all together. We feel we have good tools for rare disease researchers, so that’s really what brought us here. Particularly for rare disease, if there’s a single gene or single transcripts that are of importance with some of our spatial technologies, you can see which of these cells are expressing that faulty gene and where that’s going wrong. At the end of the day, the reason people get into this segment of research and industry is you do want to improve the human condition and make things better, so connecting all of that together and seeing how you can go from working in a sterile lab with equipment and how that can end up affecting children.

Anna Faris (09:30):

Thanks so much for joining my dad and me for this episode of PNRI Science: Rare Disease, Real Progress. These conversations really stuck with us and we hope they sparked something for you too. If you’d like to learn more about PNRI or stay connected to the work, just head to pnri.org/connect. You can sign up for updates, join an event, or even come tour the lab.

Jack Faris (09:57):

Whether you’re in the lab, in the clinic, or at home, navigating life with a loved one who has a rare disease. This work touches all of us and it moves forward because of people like you.

Anna Faris (10:10):

Because in rare disease, a diagnosis isn’t the end of the story. It’s the start of something courageous, collaborative, and hopeful.

Jack Faris (10:18):

Thanks so much for listening. We’re so glad you’re with us.

A very warm and deeply appreciative thanks to all of our sponsors and supporters who made Rare Disease Day possible. It was a smashing success, and if we make a breakthrough, it will benefit generations and generations to come. So with that, let me say particular thanks to Platinum sponsor, Trysk Print Solutions and Acadia Pharmaceuticals. Thank you also to our gold sponsors, Ultragenyx, K&L Gates, and Perkins Coie. We’re deeply grateful to our silver sponsors, Novo Nordisk, Sanofi, Ipsen Farming, Bruker Spatial Biology, SpringWorks Therapeutics, El Gaucho, and Knobbe Martens. And thank you to our bronze sponsors, Biogen, Nabsys, Dorsey and Whitney, Medlife Discoveries, and the Tall Chef. And thank you to our media sponsors, Science in Seattle and Audiotocracy. Because of this generous support, we were able to host a fantastic rare disease day scientific symposium for over 200 people. And now that information is extended to a larger audience via these podcasts, behind every sponsorship there is a person or a team of people who support the idea and go to bat for it and make it happen. So thank you to all of you.