Rare Connection
Rare Connection is a podcast dedicated to rare diseases, undiagnosed conditions, patient advocacy, medical research, and the people working to improve the lives of those living with rare disorders.
Originally launched as Nutrition Equity, the podcast expanded into Rare Connection to reflect its broader mission: sharing the stories, science, and research behind all 10,000+ known rare diseases—not just those related to the Medical Nutrition Equity Act.
Each episode features conversations with patients, caregivers, physicians, researchers, nonprofit leaders, advocates, and biotechnology experts. Together, we explore rare diseases, genetic disorders, newborn screening, clinical trials, emerging treatments, healthcare policy, diagnostic journeys, and the challenges of living with conditions that are often misunderstood.
In medicine, common conditions are often referred to as "horses," while rare diseases are known as "zebras." Although each rare disease affects relatively few people, more than 300 million people worldwide live with a rare disease. Collectively, rare diseases impact more people than many realize, yet they are frequently underdiagnosed, misdiagnosed, or diagnosed only after years of searching for answers.
I host this podcast not only as an advocate, but also as someone living with Homocystinuria (HCU), a rare inherited metabolic disorder. I understand firsthand how isolating a rare diagnosis can be and how important education, research, and community are for patients and families.
Whether you are a patient, caregiver, healthcare professional, researcher, policymaker, student, or simply curious about rare diseases, Rare Connection aims to educate, inspire, and connect people through real conversations and expert insights.
Video episodes are available on YouTube through Rare_Chef, with audio available on all major podcast platforms.
If you have a rare disease, undiagnosed condition, or work in rare disease research, advocacy, or healthcare and would like to be a guest, I'd love to hear from you. Please contact me at joanna.ball41@gmail.com.
Rare Connection is more than a podcast—it's a growing community. Beyond sharing educational interviews, I help connect patients and families with rare disease organizations, Facebook support groups, advocacy groups, clinical trial information, researchers, and others who may be able to provide support or answer questions. Sometimes the most important step is simply helping someone realize they are not alone.
Rare Connection
Amazing Ways tech is helping people with rare disease!
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Rare disease patients often face long diagnostic delays, limited access to clinical trials, and challenges in finding treatments. Traditional medical records don’t always capture the full picture, making it harder to identify and support these patients. But what if advanced data and AI could change that?
In this episode of Rare Connection, I’m joined by Jeff McDonald, CEO of Kythera Labs, to discuss how AI and data analytics are revolutionizing rare disease care. We explore how these technologies are helping to:
✅ Identify rare disease patients faster
✅ Improve clinical trial matching and recruitment
✅ Speed up drug discovery and access to treatments
✅ Empower patient advocacy with real-world data
If you or a loved one has struggled to navigate the rare disease space, this conversation is packed with insights that could make a difference.
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0:00:00 Intro
0:02:38 Why it is so hard to identify rare disease patuents in traditional healthcare systems
0:06:17 How gaps in medical records & diagnosis codes Impact access to treatment
0:11:15 barriers patients face when enrolling in clinical trials
0:14:46 gaps in medical Records
0:18:17 How AI & advanced data Analytics are revolutionizing healthcare
0:23:02 How Kythera labs is helping rare disease patients
0:26:24 Examples of how AI has sped uo access to treatment
0:29:21 How Kythera's platform improves the efficuency of clinical trials
0:32:59 How AI can help pharmeceutical companies develop treatments faster
0:34:30 Promising trends & breakthroughs in how AI is shaping drug discovery
0:41:07 How real wirld data is expanding treatment options for rare disease patients
0:45:45 How real World data can benefit patient advocacy groups benefit from data driven insites
0:49:23 Jeff's Prediction for how AI will shape the future over the next 5 to 10 years
0:50:53 balancing patient data with concerns about privacy consent
0:53:51 safe guards to ensure ethical use of data in rare disease research
0:55:31 advice to rare disease patients
0:58:36 How you can get involved with Kythera Labs
1:00:38 How you can stay up ti date on Kythera's work
1:02:16 conclusion