Bold Breakthroughs: PNRI’s Night of Celebration, Science, and Hope

In late October, PNRI celebrated recent achievements and ongoing innovation in the field of genetic research with our event: Bold Breakthroughs, an enthusiastic return to in-person events for the institute after a four-year hiatus from our classic annual fundraiser, Evening of Wine. Bold Breakthroughs represented a fresh and energizing adaptation of that classic and was a truly thrilling evening that still has staff and supporters buzzing.

Festivities, Conversation, and Promise

The was a palpable sense of festivity as donors, staff, scientists, and partners from the rare disease community, came together at AXIS Pioneer Square to raise a glass, and raise some funding for genetic research.

For many years, PNRI has forged relationships with Pacific Northwest wineries, and is known for delivering the best pours of Washington State to our supporters. This year’s offerings were no different, with varied offerings from Rotie Cellars and Dunham Cellars in Walla Walla, and Hedges Family Estate in the Yakima Valley. All wineries have strong ties to our region and an emphasis on sustainable farming practices. Our winery partners are as innovative and cutting-edge as we are, and the pairing is nothing short of perfect.

But we can’t skip the final flourish of any event menu: Signature cocktails. Guests sipped on the Human Gin-Ome Project, a zippy lime gimlet with just the right amount of sweetness, and the PNR-Rye, a dark and deliciously bitter rye Manhattan perfect for the season of early sunsets.

Servers wound through the venue with trays of tuna poke tacos, chicken karaage with sesame miso, and root vegetables with pepita pesto while attendees got up close with the science from our labs. Bold Breakthroughs offered a rare opportunity to speak with lab members as they showcased the latest from the Stubbs, McLaughlin, and Carvalho Labs at PNRI. 

With interactive monitor displays, microscopes, and computer imagery, scientists explained how mice teach us about the genetics of brain development, demonstrated how to assemble a human genome sequence with a fun puzzle, and provided insight into research happening now on Robinow syndrome by giving guests a chance look at a human DNA library just as it would be studied in the lab.

Cocktails in hand, guests flowed into the dining area where brightly adorned tables in purple and teal were filled with representatives from our sponsor orgs Trysk Print Solutions, K&L Gates, Deloitte, and Perkins Coie and community partners Rainier Scholars, the National Urea Cycle Disorders Foundation (NUCDF), and the NW Rare Disease Coalition. In front of festive bouquets and glittering candles, salads with spiced chickpeas and harissa vinaigrette were served as PNRI President and CEO John Wecker, PhD, got the attention of the crowd.

Connecting Progress: Nobel Inspiration and PNRI’s Mission

John traced a path from 2023 Nobel Prize winners Dr. Katalin Karikó and Dr. Drew Weissman to progress happening now at PNRI. Drs. Karikó and Weissman’s work on messenger RNA was the basis for the development of COVID-19 vaccines. PNRI’s scientists are similarly on the cutting edge of work that saves lives. 

John explained that, “To ensure that PNRI’s most promising discoveries reach the finish line and deliver their intended health impact, we must have funds available to meet the need with a sense of urgency.”

As we prepared for our main event panel discussion, guests enjoyed their personally selected meals: Steak with rosemary marinade, grilled Northwest salmon, or a vegan cauliflower steak with piquillo pepper sofrito. 

Dr. Aimée Dudley took the stage with her collaborators Dr. Andrea Gropman of Children’s National Hospital, and Tresa Warner, president of the NUCDF. The panel was facilitated by Jessie Hastings Conta, owner of Pickhandle Consulting and a licensed genetic counselor working with families affected by urea cycle disorders. 

With their individual expertise as scientist, clinician, and advocate, the panelists discussed a recent breakthrough from the Dudley Lab: A novel technology that is the fruition of years of research, and is now revolutionizing how a life-threatening urea cycle disorder called OTC deficiency is being diagnosed.

Dr. Gropman is the Division Chief of Neurodevelopmental Pediatrics and Neurogenetics at Children’s National, and works closely with patients like Tresa’s daughter, who has OTC deficiency. Tresa shared her personal story of how her daughter fought for her quality of life, and the ordeal her family went through to get the correct diagnosis and treatment. Stories of hardship like Tresa’s are all too common for families looking for answers when mysterious symptoms appear. “OTC deficiency is a devastating disease,” Dr. Gropman said. “But we have potentially lifesaving treatments. The key is to make the diagnosis and start treatment in time.”

This has been the goal of the Dudley Lab’s research into OTC deficiency; shortening the time to receive a genetic diagnosis and begin lifesaving treatment. As Dr. Gropman emphasized, faster diagnosis saves lives. Dr. Dudley and her lab members made this possible with their unique tool that classifies genetic variations to give physicians a reliable reference for which variations are harmless, and which cause disease. 

During the Q&A, one guest voiced the question on everyone’s mind: “Can this tool be used for other diseases?” 

Dr. Dudley answered yes. This technology is absolutely scalable to be an essential tool to medical professionals treating over 300 different genetic diseases. 

“Why isn’t that happening now?” someone else asked.

Dr. Dudley confidently replied, “Quite frankly, money.” She went on to underscore the point that John made earlier in the evening. Science is expensive. And funding from traditional sources like the National Institutes of Health can only take ideas so far. 

Nobel Prize winner Dr. Karikó worked for over 40 years against continued skepticism from her colleagues so that the technology that made COVID-19 vaccines possible was ready to go when we needed it. Dr. Dudley’s technology is ready to go now for patients with symptoms of OTC deficiency, so their doctors can look at their genome and see if that’s the correct diagnosis.

If the work of the Dudley Lab is adapted for other diseases, that gap between diagnosis and treatment gets shorter than ever before. And then, who knows what is possible?

Tresa Warner calls Dr. Dudley’s research “bittersweet.” “I’m excited for the families who will gain swift genetic diagnoses because of her technology, but I do wish I had had this twenty years ago when my daughter was diagnosed. There’s so much pain that could have been avoided.”

Our donors stepped up to meet that challenge and support the future of the groundbreaking research happening in all our labs with generous donations from every table. 

Ash Gunderson, chair of PNRI’s Board Development Committee, came to the stage to share her gratitude. “I am filled with hope,” Ash said, “Not only for the children at risk of having a urea cycle disorder, but for the children with so many other diseases who will have a fuller life because of the research that is developing now.”

PNRI’s Collective Spirit: Uniting People, Science, and Enthusiasm

The best part of Bold Breakthroughs was bringing people together. We had our steadfast supporters of many years seated next to new friends learning about our work for the first time. Experienced scientists leading their own labs at PNRI introduced donors to the brightest young talent coming up in the world of genetic research. 

At the end of the night, board, staff, and donors alike sat around their tables finishing that last bottle of wine and eating delectable miniature desserts. Talking and laughing together in the light of the silvery votives, it was obvious that we’d sparked something special. 

PNRI is entering a new chapter, from our new website to a return to hosting events like Bold Breakthroughs. All the while fresh discoveries from our labs are multiplying, becoming ready to be put into the hands of clinicians to save lives. It was truly an unforgettable evening.

To see photos from Bold Breakthroughs, explore our photo album below.