rare disease research

PNRI’s Rare Disease Research Seminar Spotlights Collaboration and Advocacy

Rare Disease Research: A Priority, Not an Anomaly

At PNRI, the topic of rare disease research is anything but rare. Our Carvalho and Dudley Labs are making lifesaving discoveries while exploring the genetics of rare disease. Scientists in all our labs know that discoveries can come from unexpected places. Partnering with advocates, clinicians, and fellow researchers can only help us create a healthier future for all.

Last week, PNRI was proud to welcome two of our partners in the rare disease community for a special iteration of our Science Matters seminar series honoring Rare Disease Day

Jill Hawkins and Jennifer Posey, MD, PhD, gave powerful presentations from their unique perspectives and lived experiences with rare disease research. Both speakers emphasized the urgent need for increased support and funding for rare disease research.

Jill Hawkins: A Parent’s Passion for Progress

Jill Hawkins is a parent of children with a rare disease and a champion for families affected by diseases whose origins are not understood. Jill has immersed herself in pursuing a better understanding of her children’s disease and founded the FAM177A1 Research Fund, building an impressive network of clinical and research partners. 

Jill spoke to PNRI staff and supporters in person, sharing her story and fiercely advocating for increased awareness, funding, and in-depth research into rare diseases.

“Science matters. It transforms lives. And by working on rare diseases, scientists can impact families like ours, and the millions of others impacted by rare diseases. This work matters, and it can make a difference.”

Jill Hawkins
Founder and President, FAM177A1 Research Fund

Dr. Jennifer Posey: The Power of Consortium Collaboration

Dr. Jennifer Posey of Baylor College of Medicine joined us virtually to present an overview of the work of the GREGoR Consortium. GREGoR, which stands for Genomic Research to Elucidate the Genetics of Rare, collaborates closely with institutions like the University of Washington’s School of Public Health, and scientists, including PNRI’s Dr. Cláudia Carvalho

Together, they help families like Jill’s by uncovering the molecular causes of rare diseases with genetic origins. Dr. Posey echoed Jill’s poignant message that despite the remarkable strides in genetics in recent years, more than 90% of rare diseases still lack an effective treatment, underscoring the urgent need for further research and advocacy.

rare disease research
Jill Hawkins and Dr. Jennifer Posey at PNRI’s 2/28/24 Science Matters seminar on Rare Disease Research and Advocacy

Resources and Recordings

It was evident in the discussions that followed that both in-person and online attendees were inspired to do more to support the rare disease community.

The unwavering dedication of advocates like Jill Hawkins, the invaluable partnership of world-class scientists like Dr. Posey, and the steadfast support of our donors propel our rare disease work forward.

If you weren’t able to attend, or want to revisit this illuminating discussion, you can watch the recording on our YouTube channel here

We invite you to read more about PNRI’s research on rare genetic diseases, and the importance of continued support for this life-changing work.