Pacific Northwest Research Institute
Pacific Northwest Research Institute
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PNRI Science: Mystery & Discovery – Ep. 6– Patients + Researchers = Strength
In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris sits down with Dr. Aimée Dudley, Senior Investigator and Interim Chief Scientific Officer at PNRI, to explore the innovative ways her lab is advancing genetic research. Dr. Dudley shares how her team uses yeast to uncover which genetic variants are responsible for diseases, particularly focusing on diagnosing rare conditions like urea cycle disorders in newborns. With a unique blend of creativity and collaboration between scientists, physicians, and patient families, Dr. Dudley’s work is accelerating breakthroughs in healthcare. Tune in to discover how this research is transforming the future of genetic diagnosis and hear about Dr. Dudley’s inspiring journey into science.
To learn more about Aimée, check out the PNRI Dudley Lab webpage: pnri.org/dudley-lab/
Join us for a Rare Disease Day scientific symposium on 2/28/25! Learn more and register for free at: pnri.org/rarediseaseday2025/
Connect with PNRI, ask our scientists questions, or come on a lab tour! pnri.org/about/connect
Переглядів: 39

Відео

PNRI Science Matters Seminar: Newborn Screening in the U.S. and Latin America
Переглядів 62Місяць тому
In this special Science Matters seminar in honor of Newborn Screening Awareness Month our guests share insights into the advancements and challenges in newborn screening, covering both U.S. and Latin American perspectives. The seminar delves into the future of genetic screening in newborns and explores the potential impact of emerging technologies. Featured talks include: Dr. Jane Buckner: Refl...
PNRI Science: Mystery & Discovery - Ep. 5-Science Is a Social Experiment with Cláudia Carvalho, PhD
Переглядів 21Місяць тому
In this episode of PNRI Science: Mystery and Discovery, Dr. Cláudia Carvalho joins PNRI CEO Jack Faris to discuss her lab’s work unraveling the genetic causes of rare diseases. Dr. Carvalho shares how international collaboration is accelerating breakthroughs in identifying genetic variants linked to these conditions. Dr. Cláudia Carvalho and her team at PNRI are on a mission to diagnose rare di...
PNRI Science: Mystery & Discovery - Ep. 4-Future of Healthcare From a Clam with Michael Metzger, PhD
Переглядів 262 місяці тому
In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris talks with PNRI Assistant Investigator Dr. Michael Metzger about a fascinating 400-year-old contagious cancer found in clams. Could these clams hold the key to unlocking cancer resistance in humans? Dr. Metzger breaks down how this unique cancer behaves like an infectious disease, what it can teach us about future cance...
PNRI Science: Mystery and Discovery-Ep. 3-Tracking Ghosts w/Bill Hagopian, MD, PhD & Michael Killian
Переглядів 612 місяці тому
In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews Dr. Bill Hagopian and Michael Killian, leaders in the international TEDDY study, which investigates environmental factors leading to type 1 diabetes. For over 20 years, they've collaborated with dedicated families to collect samples from children to uncover these triggers, comparing the process to "tracking g...
PNRI Science: Mystery and Discovery - Ep. 2 - Demystifying Nature vs. Nurture with Lisa Stubbs, PhD
Переглядів 533 місяці тому
In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI Interim Co-Chief Scientific Officer and Senior Investigator Dr. Lisa Stubbs about the intersection of nature vs. nature and how chronic stress and genetics influence pregnancy outcomes. From octopus inspirations, to the history of the Human Genome Project, to how genetics interact with chronic stress, Dr...
PNRI Science: Mystery and Discovery - Ep.1 - Driven by the Question with Rick McLaughlin, PhD
Переглядів 1613 місяці тому
In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI Assistant Investigator Dr. Rick McLaughlin on what your genome and an IKEA bookshelf have in common, zombie parasites in our DNA, "junk DNA," and what makes Darwin smile. Dr. Rick McLaughlin’s Lab explores the uncharted territory of the human genome, using new technologies to understand how variation in ...
Clinical and Genomic Studies in MECP2 Duplication Syndrome - A Path to Personalized Medicine
Переглядів 853 місяці тому
In this Science Matters seminar, Dr. Davut Pehlivan from Baylor College of Medicine discusses clinical and genomic studies of MECP2 Duplication Syndrome, with a focus on the how these studies impact the treatment of this rare neurodevelopmental condition. PNRI’s Science Matters free, virtual seminars feature discussions with scientists around the globe about exciting research in genetics, genom...
PNRI Science: Mystery & Discovery - Trailer
Переглядів 894 місяці тому
PNRI Science: Mystery & Discovery goes beyond the jargon to explore the passion and people at the forefront of genetic research. Our host, Jack Faris, is CEO of Pacific Northwest Research Institute, a 68-year-old genetics and genomics research institute in Seattle. He is also a regular guy who happens to spend his days around really smart people. Jack interviews PNRI’s brilliant scientists to s...
Advancing Diagnostics in Rare Diseases: Multiomics Approaches and Innovations in Sweden
Переглядів 1614 місяці тому
In this PNRI Science Matters seminar, Dr. Anna Lindstrand from the Karolinska Institutet in Sweden will focus on advancing multiomics diagnostics for rare diseases in Sweden, specifically targeting individuals with intellectual disabilities and neurodevelopmental disorders. Key seminar highlights include: a rare disease hackathon that fostered innovative solutions; the use of induced pluripoten...
From Sweden to Seattle: Rare Disease Research Collaboration at PNRI
Переглядів 985 місяців тому
Join us for an intimate conversation with PNRI’s Dr. Cláudia Carvalho and visiting clinical researcher Dr. Anna Lindstrand from the Karolinska Institutet in Sweden, who are collaborating for the month of May here in Seattle. PNRI’s CEO Jack Faris joins them to discuss the goals of their collaboration, share insights into how their international partnership is impacting the world of rare disease...
Dissecting the Many Causal Roots Driving Autoimmune Disease Genetic Risk
Переглядів 777 місяців тому
In this PNRI Science Matters seminar recorded on 3/20/24, John Ray, PhD, Principal Investigator at Benaroya Research Institute discusses how genetic risk for autoimmune diseases is driven mostly by genetic variation that falls within cryptic non-coding regions. To dissect the hundreds of genetic risk mechanisms that drive these diseases, the Ray Lab employed high throughput perturbational metho...
PNRI Science Matters Seminar: The Lived Experience of Rare Disease
Переглядів 1038 місяців тому
Jill Hawkins, Founder and President of FAM177A1 Research Fund, shares her family’s journey from undiagnosed children to a new foundation and robust scientific network, underscoring the power of diagnosis and research in this special PNRI Science Matters Seminar honoring Rare Disease Day 2024. (Recorded 2-28-2024.) Watch the entire seminar that includes Jennifer Posey, MD, PhD, Assistant Profess...
PNRI Science Matters Seminar: Rare Disease Research and Advocacy
Переглядів 2068 місяців тому
This special Science Matters Seminar in honor of Rare Disease Day 2024 features two influential voices in the rare disease community. (Recorded 2/28/2024.) The Lived Experience of Rare Disease Jill Hawkins, Founder and President of FAM177A1 Research Fund, shares her family’s journey from undiagnosed children to a new foundation and robust scientific network, underscoring the power of diagnosis ...
The Genetics of Pediatric Epilepsy Disorders: From Genomics to Targeted Therapies
Переглядів 3159 місяців тому
In this PNRI Science Matters Seminar, Dr. Ghayda Mirzaa, Principal Investigator at Seattle Children's Center for Integrative Brain Research, provides an overview of how genomics has advanced our understanding of epilepsy disorders including mosaic underpinnings of focal epilepsy and how this knowledge informs clinical care and targeted therapies. (Recorded on 1/24/2024.) PNRI’s Science Matters ...
PNRI's 2024 Summer Undergraduate Research Internship Information Session
Переглядів 5259 місяців тому
PNRI's 2024 Summer Undergraduate Research Internship Information Session
Using Genetics to Study the Evolution of Human Immunity and Engage Students in Science
Переглядів 20211 місяців тому
Using Genetics to Study the Evolution of Human Immunity and Engage Students in Science
PNRI's Bold Breakthoughs in OTC Deficiency
Переглядів 8411 місяців тому
PNRI's Bold Breakthoughs in OTC Deficiency
PNRI Science Matters: Streamlining Clinical and Research Genetic Testing With Long-Read Sequencing
Переглядів 169Рік тому
PNRI Science Matters: Streamlining Clinical and Research Genetic Testing With Long-Read Sequencing
Tribute to David J. Galas, PhD
Переглядів 39Рік тому
Tribute to David J. Galas, PhD
Explore PNRI
Переглядів 202Рік тому
Explore PNRI
PNRI Science Matters Seminar: Scalable Approaches for Modeling Rare Disease in Organoid Systems
Переглядів 218Рік тому
PNRI Science Matters Seminar: Scalable Approaches for Modeling Rare Disease in Organoid Systems
Is your stress level genetic? Local study examines the role played by DNA
Переглядів 1362 роки тому
Is your stress level genetic? Local study examines the role played by DNA
Decoding Stress: The Answers in Our Genes
Переглядів 3162 роки тому
Decoding Stress: The Answers in Our Genes
Type 1 Diabetes: PNRI Science & Wine Club #4 October 2021
Переглядів 693 роки тому
Type 1 Diabetes: PNRI Science & Wine Club #4 October 2021
Clams and Wine: PNRI Science & Wine Club #3 July 2021
Переглядів 583 роки тому
Clams and Wine: PNRI Science & Wine Club #3 July 2021
Adapting to Stress: PNRI Science and Wine Club #2 April 2021
Переглядів 813 роки тому
Adapting to Stress: PNRI Science and Wine Club #2 April 2021
Evolve: Science & Wine Club #1 February 17, 2021
Переглядів 483 роки тому
Evolve: Science & Wine Club #1 February 17, 2021
Dunham Cellars Wine Tasting with Joanne Dunham
Переглядів 1284 роки тому
Dunham Cellars Wine Tasting with Joanne Dunham
Sheridan Vineyard Wine Tasting with Big John Caudill
Переглядів 2224 роки тому
Sheridan Vineyard Wine Tasting with Big John Caudill

КОМЕНТАРІ

  • @rickytimmons5294
    @rickytimmons5294 Місяць тому

    I want to thank you so much for posting this. It gives me some comfort to know there are so many brillinat and deicated people working this hard to advance the treatment for this heartbreaking condition. I pray everyday for the next big break through

  • @finn4750
    @finn4750 9 місяців тому

    You are really doing a great job!! If I was you I would employ SMZeus!!

  • @jeffreymiller9808
    @jeffreymiller9808 3 роки тому

    Trutina Bordeaux blend has great quality for price point. Discovering some of the wineries of Walla Walla has been tremendous. Leonetti, Woodward Canyon, Gramercy Cellars, Dunham and A'Maurice cellars love this region.