Foundation for Prader-Willi Blog | Research

Study Uses Eye Tracking To Develop Biomarkers for Hyperphagia in PWS

Although hyperphagia (excessive appetite) is a hallmark of PWS, it's one of the most difficult features to accurately measure and characterize. Currently, the main tools in this area are questionnaires about food behavior and food interest. These can be answered by caregivers, or by the person with PWS. Although tremendously valuable, these measures are subjective, meaning they're influenced by the perception and opinion of the person filling them out.

To complement the information from these questionnaires, researchers are also working to develop objective biomarkers of food interest and hyperphagia in PWS. An objective biomarker is a reproducible and accurate measure, indicator or proxy.

Topics: Research

Dr. Yossi Tam Searching for Biological Basis of Osteoporosis in PWS

Individuals with PWS are at higher risk for osteoporosis than the general population. Osteoporosis is due to low bone mineral density and leads to weakened bone strength and increased risk for fractures. 

Dr. Yossi Tam at the Hebrew University of Jerusalem is working on a project to better understand the biological mechanism of increased osteoporosis in PWS. The project, "Role of the Endocannabinoid System In PWS-Induced Osteoporosis and Skeletal Growth," is funded by FPWR.

Topics: Research

2017 PWS Research Grants Cover Behavior, Genetics, Hyperphagia & More

We're thrilled to announce our first round of PWS research grants for 2017! Seven outstanding projects were selected for funding, totaling $795,221 in support. These projects address a variety of topics important in PWS, including behavior, genetics, and measuring hyperphagia

Topics: News, Research

Dr. Ingrid Tein Studies Potential Benefits of CoQ10 in PWS

Many parents of individuals with Prader-Willi syndrome (PWS) have been faced with ambiguous information about the dietary supplement coenzyme Q10 (CoQ10). There are plenty of anecdotal reports of supplemental CoQ10 providing a great improvement in metabolic function and energy levels, which are so often disrupted in PWS, but also many stories about CoQ10 having little or no impact. We're currently lacking a controlled scientific study of the effects of CoQ10 in PWS, and the associated recommendations on proper dosing.

Dr. Ingrid Tein, an expert in metabolic disorders, received support from FPWR starting in 2016 for such a study — Mitochondrial Complex I Dysfunction in Prader-Willi Syndrome: A New Therapeutic Target — which is badly needed by the PWS community.

We recently had the opportunity to talk with Dr. Tein about her background and unique insights into PWS.

Topics: Research

Biomarkers and Beyond: 2016 Update from PWS Clinical Trials Consortium


Over the past several years, the PWS community has been fortunate to see several potential therapies for PWS enter clinical trials. To date, the only FDA-approved drug for the treatment of PWS is growth hormone, but it's clear that new medications are needed to help those with PWS manage the insatiable hunger and behavioral challenges. Given the current pipeline, we are hopeful that over the next few years we will see therapies successfully break through and get FDA approval for PWS.

The PWS Clinical Trials Consortium is contributing to achieving that goal by addressing the key challenges of PWS clinical trials. This blog gives an overview of the Consortium's activities in 2016.

Topics: Research

PWS Clinical Trials Alert: April 2017

For more information on the opportunities below, as well as others, please visit our PWS Clinical Trials Opportunities page or (and search for "prader-willi"). We encourage members of the PWS community to seek out information that will help them decide whether participation is right for them. Please contact the study coordinators directly for important details about each study and to answer any questions you may have. Some trials may have funds available to support travel to study sites.

In addition to new studies, there may be changed criteria for older studies, so please read through carefully, check out the clinical trials webpage, and see how you might be able to contribute.

Topics: Research

LaSalle Gene Research Paves Way for PWS Sleep and Metabolism Therapies

Sleep disorders are common in Prader-Willi syndrome (PWS). These are associated with central and obstructive apnea, disrupted sleep, and excessive daytime sleepiness. But why exactly do individuals with PWS have abnormal sleep patterns?

Dr. Janine LaSalle has uncovered an exciting new link between the missing genes in the PWS region of chromosome 15, and genes that control our circadian rhythms (i.e., our daily sleep-wake cycle). This intriguing discovery opens the way for new therapies to regulate sleep and metabolism in PWS, which Dr. LaSalle is currently investigating with support from FPWR. I recently spoke with Dr. LaSalle about her background, the current research in her lab, and her outlook on PWS.

Topics: Research

New Evidence Supports Benefits of Hippotherapy

A new study highlighted in Medical News Today further supports the benefits of hippotherapy with regards to behavioral tasks and cognitive development. Hippotherapy is the use of horseback riding as a therapeutic or rehabilitative treatment.

Topics: Research

Bearden Research Transforming Understanding of Mental Illness in PWS

Behavior and mental health issues are an important part of Prader-Willi syndrome (PWS). In particular, one of the most challenging aspects for families to face is the onset of psychosis (i.e., mental illness characterized by symptoms, such as delusions or hallucinations, that indicate an impaired contact with reality). Recognizing the early — or “prodromal” — signs of psychosis can be a very effective path to intervention and treatment.

While relatively new to the PWS community, Dr. Carrie Bearden has extensive experience studying the causes of psychosis in neurodevelopmental disorders, and has recently been funded by FPWR to identify these early signs of mental illness in PWS. I recently talked with her about her background, research, and perspective on PWS.

Topics: Research

Schaaf Research Connects Missing MAGEL2 Gene to PWS Symptoms

Prader Willi syndrome (PWS) results when a set of key genes on chromosome 15 are missing and/or inactive. Figuring out the role played by each of these genes in PWS is a major goal for PWS research. One of the genes in the PWS region is called MAGEL2.

Dr. Christian Schaaf is actively pursuing the question of how a missing — or disrupted — MAGEL2 gene translates into the classic symptoms of PWS and related genetic disorders. He's particularly interested in testing the connection between MAGEL2 and autism-like behaviors.

Dr. Schaaf's work has been supported by FPWR in two funding cycles. I recently talked with him about his background, research, and focus on PWS.

Topics: Research

PWS Blog Subscribe