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At 26, Adrienne went to the emergency room with severe high blood pressure and left with an unexpected diagnosis of auto...
09/04/2026

At 26, Adrienne went to the emergency room with severe high blood pressure and left with an unexpected diagnosis of autosomal dominant polycystic (ADPKD) caused by a spontaneous genetic mutation. Her journey since has been marked by uncertainty and serious health challenges but also by finding strength and connection within the PKD community and becoming an advocate for others.

This , we’re sharing Adrienne’s story on the and recognizing the patients, families and advocates whose experiences continue to deepen our understanding of PKD and inspire progress.

Hear from Adrienne and listen to the episode here: https://bit.ly/3T8369N

09/03/2026

Our mobile testing van is bringing no-cost to families across the West Coast. Here's what's actually in the box: an envelope, a short form, and a cheek swab — that's it.

Swab your cheek, seal it up, mail it off. Two to three weeks later, results are in. Simple as that.

Follow along as the tour continues.

Thank you, Ashley, for sharing your story with us. Your candor offers insight and hope to others living with erythropoie...
08/28/2026

Thank you, Ashley, for sharing your story with us. Your candor offers insight and hope to others living with erythropoietic protoporphyria ( ) and reminds us why patient voices are so important.

We’re grateful for her vulnerability and for helping others feel seen.

Listen to her full story on the : https://bit.ly/4yWorTK

08/27/2026

One family told us this mobile van doesn't just care about today – it cares about their future. It also means their health care provider doesn't have to arrange a separate referral to get a suspected diagnosis moving.

Our tour is bringing no-cost genetic testing straight to families across the West Coast, with full privacy, right where they are.

Follow along as the journey continues.

08/19/2026

For Anais, the future is filled with the same dreams many teenagers have: graduating, finding a career she loves, and one day starting a family. Hear how she and her family have navigated life with achondroplasia.
Watch their story here: https://bit.ly/4bMev5n

08/18/2026

In this episode of On Rare, Pete Schmidt, MD, MSc, Chief Medical Officer of Gondola Bio, joins Ashley, who lives with erythropoietic protoporphyria (EPP), to walk us through the science behind EPP and X-linked protoporphyria (XLP), two rare genetic conditions caused by a buildup of protoporphyrin IX that can cause severe pain from sunlight and, in some cases, serious liver damage.

Listen to the new episode: https://bit.ly/4yWorTK

08/13/2026

Not all limb-girdle muscular dystrophy (LGMD) is the same. Knowing your specific subtype can:
✔️Help your care team better understand how to support you
✔️Reshape how symptoms are followed and managed
✔️Help you and your care team create a care plan that’s thoughtful and individualized
✔️Lead to more meaningful conversations about risks, monitoring, and planning ahead

📍Learn more about subtypes at KnowLGMD.com

08/12/2026

Special moments. Everyday adventures. Lots of laughter. And a meaningful reason to hit ‘record.’ 💚

For the Garcia family, sharing videos has become a way to build understanding, shift perceptions, and show that a person’s height doesn’t define what they’re capable of.

Watch how the Garcias are “changing the world one day at a time.”

For most of her life, Ashley didn't have a name for what was happening to her body. Just brief sun exposure could cause ...
08/07/2026

For most of her life, Ashley didn't have a name for what was happening to her body. Just brief sun exposure could cause excruciating pain, and years later, a life-threatening liver crisis led to a transplant. She wasn't diagnosed with erythropoietic protoporphyria (EPP) until after her 40th birthday.
In this episode of On Rare, Ashley talks with BridgeBio's David Rintell and Mandy Rohrig about her long road to diagnosis and the experience of waiting for a donor organ.
Listen to the new episode: https://bit.ly/4yWorTK

"Having hypochondroplasia doesn’t limit your capability, it just makes your path a little bit more unique.” Meet Jaiden,...
08/05/2026

"Having hypochondroplasia doesn’t limit your capability, it just makes your path a little bit more unique.”

Meet Jaiden, a storyteller, aspiring English teacher, cheerleader, and young adult living with hypochondroplasia. His journey has taught him to love and embrace who he is, and now he inspires others to do the same.

Learn more about hypochondroplasia: https://bridgebio.com/science/hypochondroplasia

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