Research Impact

Built for breakthroughs: Donor-powered research

When Callum was born, his parents knew something was wrong. Within days, he was transferred to Children’s Mercy, where a rare CACNA1C genetic mutation was discovered – one that affects nearly every system in the body. His journey has included seizures, surgeries and complex care from a multidisciplinary team. But it’s also a story of hope, powered by research. 

We had a lot of strong data that indicated that maybe one day we would be able to predict medications that would work for patients ... but Callum’s was the case where we did it. Investments in this innovation allowed us to be ready for Callum when he needed it.

Mini organs: A breakthrough in personalized therapy for rare genetic diseases

Thanks to donor-supported innovation, Children’s Mercy researchers — including Scott Younger, PhD, Genomic Medicine Center — used Callum’s own cells to create patient-derived brain organoids: miniature, lab-grown models of his neurons. These organoids allowed the team to test potential treatments safely and effectively, leading to the discovery of a promising medication that would never have been considered otherwise.

“We wanted to see if we could reduce the time to finding the right therapeutic — in the lab. The three-dimensional cellular models that we were able to build allowed us to see activity that mirrored Callum’s clinical condition helping us identify an existing medication that could reduce seizure activity for him,” explains Dr. Younger.

This groundbreaking approach, recently published in Nature, represents a leap forward in personalized medicine. Dr. Younger’s lab developed a rapid and scalable method to create patient-specific organoids from a simple blood draw — reducing the timeline from over a year to just weeks.

This type of translational research — from the patient to the bench and back to the patient — means faster answers, more targeted therapies and renewed hope for children with rare diseases.

For Callum, it means more time swimming, snuggling with his dogs and playing with his sister Hallie. For his family, it means a future filled with possibility.

“Callum is just the happiest little boy you would ever meet. While he is 100% dependent, nonverbal, non-mobile on paper, he makes those around him feel so loved,” says Mary, Callum’s mom.

And for donors who are passionate about scientific discovery and the future of children’s health, it’s a powerful reminder that your investment in research is transforming lives — today and for generations to come.

Uniting care and discovery for every child’s future

Earlier this year, Children’s Mercy created a new leadership role to bridge two of the organization’s strengths: clinical excellence and innovative research. In February of 2025, Tomi Pastinen, MD, PhD, was appointed to serve as Vice President and Associate Chief Medical Officer for Clinical and Research Integration.

Here, everyone understands that putting our clinical and research capabilities together will advance child health in the best possible manner.

Expanding access to genetic testing in rural communities

Thanks to support from research champions like you, Children’s Mercy is leading the way in genomic medicine — building the most advanced system for rare disease diagnosis in the world. Through Genomic Answers for Kids, the hospital has created the nation’s first pediatric data repository and is delivering long-sought answers to families.

For families in rural areas, however, accessing genetic testing can be especially difficult and costly.

Ana Cohen, PhD, FACMG, Assistant Director, Molecular Genetics and her colleagues at the Genomic Medicine Center are working to close this gap by partnering with primary care physicians in rural communities — using telehealth, provider education and streamlined referrals to make testing more accessible.

You shouldn’t have less access to care or research just because you don’t live close to it. By thinking outside the box, we can bring more answers to more families.

Through Genomic Answers for Kids, these services are provided at no cost to families.

Your support of research empowers researchers like Dr. Cohen to pursue bold, community-informed solutions that not only improve individual patient care but also shape a more inclusive future for pediatric precision medicine.

*Statistics as of fiscal year 2025.