Transforming Rare Disease Care Through Genomic Medicine

For kids with rare diseases, every day without an answer matters. At Children’s Mercy in Kansas City, advances in genomic medicine are helping families receive diagnoses and treatments faster, giving children a better chance to grow, play, and thrive. Dalton was rapidly losing his hearing, speech, and mobility as his family searched for a diagnosis. That’s when a team at Children’s Mercy used genome sequencing to identify the 3-year-old’s neurological disorder and give doctors a treatment plan. Through two breakthrough technologies, Children’s Mercy is now delivering answers faster than ever. Long-read sequencing reads 100% of a child’s genome and can shorten a process that once took months or years to less than two weeks, helping the hospital’s Genomic Medicine Center make more than 2,400 rare-disease diagnoses. And organoids, miniature models grown from a child’s own cells, let researchers test therapies safely. Together, these advances give families answers and kids the treatments they need to thrive. By investing in faster diagnoses, more personalized treatments, and research that can be shared with hospitals around the world, Children’s Mercy is working to put kids first and ensure more families receive the critical care they need.