ANCHORAGE - Movement. Touch. Motion. For four-year-old Rhys Morgan-Krebs, these everyday skills can be a challenge.

Rhys was born with Williams Syndrome, a rare genetic disorder affecting one in eight thousand people. He spends his mornings practicing sensory-motor play and learning with a pediatric occupational therapist.

Williams Syndrome can present with heart defects, elevated calcium levels, and delayed speech in children. Physically, they tend to have sharp, “elfin” facial features: a tapered chin, upturned noses, and wide smiles. But the syndrome also brings with it some unique gifts.

“Patients with Williams have these wonderful strengths,” Jocelyn Krebs said. “They're incredibly friendly, outgoing, and talkative. They're very musical people that have a lot to teach people.”

Jocelyn is Rhys’s mother. And she knows all about Williams Syndrome, because she's been studying the uncommon genetic condition for years -- long before Rhys was even born.

Jocelyn is a research biologist at the University of Alaska Anchorage. She uses frog embryos to better understand the genetics behind the disorder. She looks to see how genetic mutations eventually effect physical and behavioral development.

An absence of a specific group of 20 to 30 genes causes Williams Syndrome. Jocelyn studies one of those genes, known at WSTF—Williams Syndrome Transcription Factor—and looks to understand how removal or suppression of this one gene results in changes in the frog embryos.

Looking at the embryos under a microscope, Jocelyn said that “development is a time when very specific genes have to get turned on and off, at exactly the right time, and if you get anything wrong, you've screwed up this very complex process.”

Her research into how the WSTF gene works in frog embryos gives insight to the behavioral and physiological changes Williams Syndrome presents in humans.

When she started studying Williams, Jocelyn said she didn't think about what life was like for patients and families living with the disease. Rhys has changed that.

“Obviously now that I have a son with Williams, it's made my own research much more interesting to me,” she said. “I've gone from just this academic interest in a fascinating disease to really caring about understanding it, and ultimately to thinking about ways that we would be able to improve the lives of patients with Williams.”

Jocelyn’s research helps her understand the science behind Williams Syndrome. But her son Rhys lets her see the life in front of it.