"Rare diseases are leading an interesting revolution in medical science. They are leading the field to try new approaches that can help these families." - Dr. Cláudia Carvalho

In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI's Assistant Investigator, Dr. Cláudia Carvalho, about her international collaborations working together to solve the unsolved case of rare diseases. Her lab digs deep into the human genome to locate the structural variants in DNA that cause disease.

Cláudia Carvalho, PhD, is a PNRI Assistant Investigator and an affiliate faculty member in the University of Washington's Department of Genome Sciences and the Molecular and Cellular Biology Program. She earned her PhD in Biochemistry from the Federal University of Minas Gerais in Belo Horizonte, Brazil, and completed a postdoctoral fellowship at the Baylor College of Medicine.

What you'll hear in this episode:

• [2:54] Meet Dr. Cláudia Carvalho
• [5:29] A Hack-a-thon as a way of working intensely
• [10:04] Working with rare diseases
• [13:27] Dr. Carvalho got interested in science at 5 years old
• [19:09] The ways rare diseases affect the family
• [23:40] Scientists unite to research rare diseases
• [30:56] The changing landscape in the culture of science
• [34:29] Dr. Carvalho's vision for the future
• [36:06] Glimpsing 10 years into the future

In this episode, Cláudia explains how a recent hackathon accelerated discovery of genetic variants that can cause rare diseases. She shares how international collaboration is leading the effort to understand the origins of diseases to identify treatments and offer hope to families.

The Carvalho Lab embodies PNRI's spirit of intellectual freedom to drive medical breakthroughs. We provide the freedom for scientists to follow where the science leads, and that culture creates incredible discoveries.

To learn more about Cláudia, read her in-depth Q&A: or check out her lab webpage: pnri.org/carvalho-lab. Join us for a future Science Matters seminar and Rare Disease Day scientific symposium on 2/28/25!

Connect with PNRI, ask our scientists questions, or come on a lab tour! pnri.org/about/connect

This podcast is hosted by PNRI CEO Jack Faris and his daughter Anna Faris.

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