Rare Disease Day 2024

Please join us for an intimate event at PNRI to celebrate Rare Disease Day. On Wednesday, February 28th, we have a limited number of 20 VIP seats available to experience two powerful speakers sharing their work on rare diseases from very different perspectives. Our first speaker is a mother of children with a rare disease advocating for genetic research and the second speaker is a top genetic researcher focused on rare diseases.

PNRI is honored to host this event that weaves together the many threads at the exciting frontier of genetic research for rare diseases. These dynamic partnerships bring together researchers, clinicians, patient advocates, and fierce mothers who are united in their passion to improve the diagnosis and treatment of rare diseases. We hope to have you join us for this inspirational event!

Wednesday, February 28th

11am – 1:30pm

Pacific Northwest Research Institute
720 Broadway, Seattle WA 98122

Lunch and parking will be provided.

Admission is free, but you must RSVP by emailing Chief Advancement Officer Shannon Bowen at sbowen@pnri.org by Noon on Monday, February 26th.


  • 11am to 11:30am: Mingling and Light Lunch
  • 11:30am to Noon: Jill Hawkins speaks on “The Lived Experience of Rare Disease” and Q&A
  • Noon to 1pm: Dr. Jennifer Posey, MD, PhD, speaks on “BCM-GREGoR: Accelerating Molecular Diagnoses for Rare Disease Families” with Q&A
  • 1 – 1:30pm: Mingling and Light Lunch

The Lived Experience of Rare Disease

Jill Hawkins, Founder and President of FAM177A1 Research Fund, will share one family’s journey from undiagnosed children to a new foundation and robust scientific network, underscoring the power of diagnosis and research.

BCM-GREGoR: Accelerating Molecular Diagnoses for Rare Disease Families

Dr. Jennifer Posey, Assistant Professor and Physician Scientist in the Department of Molecular and Human Genetics at Baylor College of Medicine, will introduce the Baylor College of Medicine Genomic Research to Elucidate the Genetics of Rare (BCM-GREGoR) research program.  She will discuss the goals and scope of their work, highlighting several recent discoveries.