Imagine the deepest hunger one could ever experience. Not the type of hunger one feels after skipping a meal but a feeling of profound starvation.

Dr. Jennifer Miller

This is what a young patient with Prader-Willi syndrome, a rare disease that causes insatiable hunger, once said to Jennifer Miller, M.D. ’98, an associate professor of pediatrics at the UF College of Medicine.

“That’s how I feel every day,” said her patient.

Today, the vivid memory of her patient’s impactful statement continues to serve as motivation for Miller, a UF pediatric endocrinologist, who has spent the past 10 years studying Prader-Willi and its effects on its younger victims.

Prader-Willi syndrome is a rare congenital disease caused by genetic changes that occur randomly, affecting one in approximately 15,000 people. Patients are born with a gene that is missing a part of chromosomes that come from parents, according to the National Center for Biotechnology Information. This causes patients to become morbidly obese and have intense cravings for food, slow mental development and muscle impairment.

When Miller became a pediatric endocrinology fellow at the UF College of Medicine in 2001, she was interested in clinical research opportunities applicable to patient care. That’s when she met Daniel Driscoll, M.D., Ph.D., a professor of genetics and metabolism in the college’s department of pediatrics, who was already studying obesity and Prader-Willi syndrome.

“I didn’t know much about the disease at that time,” Miller said. “Clinical research was still new for fellows as most fellows were doing lab-based research at that time. But with Dr. Driscoll as my mentor, I was able to do clinical and patient care research.”

In the 1980’s, there was a study observing the effects of early-onset obesity on cognition in individuals with Prader-Willi syndrome. Driscoll and Miller began a clinical research study to investigate whether early-onset obesity had negative impact on children’s brain development and ability to learn. They found that children with early-onset obesity, regardless of the cause of the obesity, had lower cognitive function than their non-affected siblings and some showed premature symptoms of Alzheimer’s disease in their late teen years on their brain MRI.

“Obesity and Prader-Willi syndrome affect all aspects of patients’ lives,” Miller said. “When they’re constantly starving, they naturally can’t focus on anything else. So it impacts their socioeconomic statuses and limits their ability to function normally in their communities.”

Driscoll had discovered DNA methylation in the early 1990’s which allows children with Prader-Willi syndrome to be diagnosed soon after birth.  The early diagnosis allows Miller to provide early treatment with growth hormone which increases muscle mass and decreases fat mass. Proactive intervention can keep pediatric patients from becoming obese, she said.

Currently, Miller works with more than 400 young patients who come to the newly expanded Shands Hospital for Children at UF from all over the world.

“Shands Hospital for Children is dedicated to advancing pediatric clinical research,” Miller said. “It’s wonderful to have space exclusively dedicated to our population and treat them.”

A Gator since 1994 and married to a UF family medicine physician Daniel Rubin, M.D. ’98, Miller appreciates the environment and abundant resources that UF offers. She believes the diversity of opportunities is what makes UF and its people successful.

“I have bounced ideas back and forth about obesity with people from almost every department in the college and the whole university,” she said.

Miller continues to look for ways to safely and effectively monitor patients’ food intake. For example, she is seeking funding to purchase for her patients a wearable device called Fit Bit, a tracker that measures real-time calorie intake and physical activity levels. The device helps Miller continuously evaluate patients’ progress rather than having to wait to meet with them periodically.

“I just love working with my patients,” she said. “It is so rewarding to see these children grow healthier and smarter.”