genetic disease

Missouri quietly restricted its policy for transgender residents to change the gender markers on their state IDs. For some people, it was the last straw. Plus: How Children’s Mercy researchers are working to make genetic testing more accessible in rural Kansas.

Rare diseases are hard to diagnose and often require costly genetic testing and visits to specialists. The testing can be hard to access, especially for people who live in rural areas. Researchers at the Genomic Medicine Center at Children’s Mercy Kansas City are trying to close the gap.

In January, a Parkville family learned their 8-year-old daughter had a rare illness. Though there is no cure, there is a drug that could help slow the disease. The problem? It costs more than $200,000 a year. Plus: Kansas politicians make bold claims about how to stop population declines in rural communities. Their efforts may not be enough to reverse the trend.

In January, the Anstaett family learned their eight-year-old daughter had Batten disease, a rare condition with a difficult — and eventually terminal — prognosis. The drug showing promise in slowing the disease isn't covered by their insurance because it's still in clinical trials.

A Johnson County partnership is offering people with Down syndrome and their caretakers access to therapy services. Down Syndrome Innovations and the county-run mental health center will provide a mental health clinician for eight to 12 sessions per patient.

20 years after scientists finished the sequencing of the first human genome, scientists around the world — including from the Stowers Institute in Kansas City — have taken another monumental step.

Kevin Wake is sharing his experience being denied proper treatment in an emergency room in order to draw attention to health disparities faced by sickle cell patients.

Donavon Decker became, in more ways than one, an ambassador of limb girdle muscular dystrophy type 2D, a rare degenerative disorder. But decades after he participated in patient trials and fundraised for research, drug companies are still nowhere close to a cure.

She already has had to bury her 17-year-old daughter Claire. Gwen Hartley's mission now is to have Kansas lawmakers help save the life of her 12-year-old…

When Kelly Ranallo's first child was born 21 years ago, something seemed wrong, but no one could put a finger on it. When Ranallo’s second child was born,…

Scott Hawley is a geneticist at the Stowers Institute. In this encore presentation, we hear how his career has its roots in a high school gym class ...…

Geneticist Scott Hawley has a way with words — especially when it comes to explaining science to non-scientists.For example, he remembers the connections…