Cell Culture Model Used to Study How PWS Genes Regulate Hormones

Hormones are little messengers that circulate in the body, carrying important information from one location to the next, and triggering the appropriate response to that information. Numerous hormone levels are altered in PWS. These include hormones that regulate feelings of hunger and fullness, hormones that impact development, growth, and puberty, and hormones that control metabolism. For example, growth hormone deficiency is well known to the PWS community and growth hormone treatment has shown to be an effective therapy, improving several clinical outcomes including body composition, height, muscle function, bone density, metabolism, development, and cognition.

However, growth hormone is only one of many hormones that are dysregulated in PWS and the underlying biology of how other altered hormone levels contribute to the characteristics of PWS is not well understood. Dr. Nicholls’ group at the University of Pittsburgh Medical Center has genetically manipulated cells in a laboratory dish so that they can be used to study how PWS genes regulate hormones — specifically, hormone production and release. This model system will advance our understanding of PWS at the cellular level, and may also provide a tool that can be used for high throughput screening of potential new small molecule therapies for PWS.

Dr. Nicholls is an active member of the PWS research community. We have been fortunate to have Dr. Nicholls present his work at FPWR conferences most recently in 2016 in Providence, RI.

To hear from more researchers in the field like Dr. Nicholls, please mark your calendar for the FPWR Family Conference in New Orleans in October 2019!

Learn more about the importance of growth hormone therapy for PWS.

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Topics: Research

Jessica Bohonowych


Jessica Bohonowych is a graduate of Duke University, and holds a PhD in Pharmacology and Toxicology at the University of California, Davis. Incorporating her research background, knowledge of pharmacology and drug development, and teaching experience, Jessica works with Theresa Strong in managing FPWR’s grant portfolio, communicating research results and breakthroughs to our community, aiding in special projects such as the Clinical Trials Initiative and Molecular Resource Center, and is heading the development of the Global PWS Registry.