genetic disease | KCUR

genetic disease

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 daughter Lola.

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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, the Overland Park mother's feeling was even stronger.

"(Our pediatrician) gave that look that no mom wants to see, which is 'I'll be right back. I'm going to go and make a couple phone calls, then I'll be back, and we’ll talk about this,'" Ranallo says.

Paul Andrews / www.paulandrewsphotography.com

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 ... and how that influences his work today.

Plus: get to know the man behind your morning commute. He shares a story about the time he spent New Year's Eve playing Missile Command.

Guests:

Paul Andrews / paulandrewsphotography.com

Geneticist Scott Hawley has a way with words — especially when it comes to explaining science to non-scientists.

For example, he remembers the connections he made the first time he saw "Star Warswhen he was in graduate school.

Paul Andrews / www.paulandrewsphotography.com

He's a man with many titles: investigator; Dean of the Graduate School at the Stowers Institute; Professor of Molecular and Integrative Physiology at KU Med; Adjunct Professor at UMKC. We hear about how his career has its roots in a high school gym class ... and what exactly he does in his lab.

Plus, a report from SXSW on the MidCoast Takeover, a showcase of KC bands.

Guests:

An Alzheimer's diagnosis impacts not just the person who has the disease but their family and friends who take on a caretaking role, as well. Too often, the health and happiness of the supporters is overlooked, to the detriment of everyone involved.

Guests:

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Testing the complete DNA of critically ill infants can lead to significant changes in treatment strategy, according to a newly published article by researchers at Children’s Mercy Hospital.

Genetic diseases are the leading cause of mortality in infants, according to Dr. Laurel K. Willig, a Children’s Mercy pediatric nephrologist and a lead author of the study.

She says many of these diseases may go undiagnosed, however, because of inadequate testing of critically ill newborns.

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Researchers in Kansas City may have developed a way to speed up the diagnosis of critically ill infants with genetic diseases.