The search for a rare disease diagnosis can be a long and lonely journey. But what if advanced technology could help light the way?

In this episode of March Forward, we’re exploring SHEPHERD, an innovative AI approach bringing new hope to rare disease diagnosis. Published in June 2025, SHEPHERD uses a clever "few-shot learning" method, allowing it to learn effectively even from limited patient information. It also uses a deep rare disease knowledge graph, acting like a vast, interconnected map to find important connections for your unique health picture.

SHEPHERD is designed to support you by:

• Uncovering Causal Genes: Helping pinpoint the genetic changes behind a condition.
• Finding 'Patients-Like-Me': Connecting you with others who have incredibly similar conditions.
• Characterizing New Conditions: Describing unique presentations to get closer to answers.

This isn't just theory. SHEPHERD has been tested on real-world cases from the Undiagnosed Diseases Network, successfully identifying causal genes in 40% of patients across many challenging areas. It works with clinicians, providing vital insights to shorten the diagnostic odyssey.

Learn More About SHEPHERD's Research:

• SHEPHERD's Published Research (npj Digital Medicine): https://www.nature.com/articles/s41746-025-01749-1
• Zitnik Lab SHEPHERD Project Page: https://zitniklab.hms.harvard.edu/projects/SHEPHERD/
• SHEPHERD Preprint (medRxiv): https://www.medrxiv.org/content/10.1101/2022.12.07.22283238v2
• PubMed Central Article: https://pmc.ncbi.nlm.nih.gov/articles/PMC12222559/

Subscribe to March Forward, for more deep dives. Like this episode, and share your thoughts below; we’re here to listen.

#RareDisease #AIinHealth #Undiagnosed #GeneticDisorders #DiagnosticOdyssey #MarchForward #Podcast #YouAreNotAlone #PatientEmpowerment

-----------------------------------------------------

We know that navigating a health challenge can sometimes feel isolating. That’s why we created March a place for patients, families, and caregivers to connect with others who truly get it.

March is built on a simple but powerful idea: you are not alone.

Here, you can share your story, find trustworthy information, and offer and receive support without judgment. Our goal is to help you take those steady, forward steps on your journey, together with a community that understands and cares.

Our podcast, March Forward breaks down complex research, highlights promising therapies, and keeps you informed about the latest rare disease breakthroughs. Because hope starts with staying informed.

We invite you to listen, learn, and be a part of our growing family. To stay connected with our community and get the latest updates, please join the conversation with us across our platforms.

Follow us and find your community:

YouTube: https://youtube.com/@march.community?si=0t79oUkTJErtlENM

Instagram: https://www.instagram.com/march.circle?igsh=MWIzdmV5b3g0azM1ZQ==

LinkedIn: https://www.linkedin.com/company/march-community/

Thank you for being here. Together, we can find a better way.

Hosted on Acast. See acast.com/privacy for more information.