Prader-Willi Syndrome

 

Prader-Willi syndrome, or PWS, is a genetic condition resulting from the loss of expression of paternal genes on chromosome 15. Individuals with PWS have low muscle tone, feeding issues in infancy, multiple endocrine issues and early-onset weight gain, can    have compulsive and rigid behaviors, and typically develop an insatiable appetite later in childhood into adulthood. At UF Health, our multidisciplinary team, led by PWS program director Jennifer Miller, MD, provides comprehensive care to address all the different aspects of PWS. Our team includes experts in endocrinology, genetics, speech and language pathology, pulmonology, sleep medicine and nutrition, delivering state-of-the-art care and long-term follow-up to patients affected by PWS.

 

Excellence in Prader-Willi syndrome

  • Internationally renowned clinical program
  • Leading-edge clinical research
  • Key opinion leaders driving guidelines

Current Research Studies:

  • Intranasal oxytocin for infants with PWS
  • Kiddo Watch Study
  • GLWL ghrelin-O-acyltransferase, or GOAT, Inhibitor study for patients 16 years of age and older
  • Genetic causes of early-onset obesity
  • Probiotic study (bifidobacterium lactis) for patients 18 years of age and older
  • Fiber study for children ages 8 to 15 with PWS or obesity and constipation

Upcoming Clinical Research Studies:

  • DCCR (diazoxide) for individuals with PWS ages 8 to 18
  • CBD-THCV for ages 7 to 18
  • Carbetocin for ages 7 to 18
  • Alize Pharmaceuticals study for patients 16 years of age and older

 

Jennifer Miller, MD

Director of the UF Health PWS Program

Jennifer Miller, MD, is an associate professor in the division of pediatric endocrinology for the UF Department of Pediatrics. She graduated with her medical degree from UF in 1998 and her master’s degree in clinical investigation from UF in 2005. She has done all of her training in pediatrics and pediatric endocrinology at UF. Dr. Miller’s research, in collaboration with Daniel Driscoll, MD, PhD, focuses on evaluating the effects of early-onset obesity (i.e. obesity occurring before age 4) on the developing brain. Together, they study three groups of individuals — those with PWS, those with idiopathic early-onset obesity, and normal weight control siblings from both of those groups. Because PWS can be diagnosed at birth with currently available genetic testing and can be treated with growth hormone therapy to increase muscle mass and decrease fat mass, parents can be given prospective counseling to help them keep their child’s weight normal for height through childhood. However, without the appropriate environmental controls instituted by the parents, the natural history of PWS is for children to become obese at 18 to 36 months of age. Thus, individuals with PWS are an excellent model to discover the effects of early obesity on the brain.

Obesity in adults has been shown to be associated with white matter lesions and brain atrophy on MRI scans. Dr. Miller’s group is the first to identify similar brain MRI findings in children and adolescents with early-onset obesity. Currently, they are performing brain MRI scans on children over 8 years of age with