Foundation for Prader-Willi Blog | Research

Temperature May Impact Gene Expression in Mice During PWS Research

There are several mouse models used in PWS research, each missing some part of the DNA that is absent in PWS. Two of the most commonly used mouse models are the Snord116 mouse and the Magel2 mouse. Each of these has a deletion of the respective PWS-related gene.

These "deletion" mouse models are some of the best available tools for research, and they have provided a tremendous amount of valuable information to help us better understand PWS. However, to date, these mouse models have not mimicked all of the symptoms of PWS. For example, one model may have intense food-seeking behavior and overeat, but not develop obesity. Another model may be obese and have poor muscle function but not display the drive for food.

Topics: Research

Identifying the Role of the 'Hunger Hormone' Ghrelin

There are numerous hormones that are intricately involved in connecting the stomach to the brain and telling us when we are hungry or full. One of these hormones is ghrelin, which is often referred to as "the hunger hormone." Although individuals with PWS have higher than typical levels of ghrelin, it is still unclear whether higher ghrelin drives hyperphagia in PWS. The underlying cause for higher levels of ghrelin in PWS is also unknown.

Teasing out the role of ghrelin will help direct potential therapies targeted at the ghrelin system. Dr. Jeffrey Zigman at the University of Texas Southwestern is working to answer some of the questions around ghrelin with his project "Ghrelin: Is it detrimental, beneficial, or inconsequential in Prader-Willi Syndrome?." The project explores whether high ghrelin in PWS is "good" or "bad."

Topics: Research

New Study on Social Functioning Intervention for Young Adults with PWS

Family members and caretakers of individuals with PWS know that those individuals are often the friendliest people in a room, particularly when they are young children eager to give a hug.

However, people with intellectual or developmental delays often suffer from social isolation, loneliness, depression, and anxiety, all of which can contribute to poor health.

An FPWR-funded project will recruit young adults for a group intervention aimed at improving social skills, perceptions and thinking, and managing a range of social and emotional issues.

Topics: Research

Study Ties PWS Characteristics to PC1 Enzyme Deficiency [VIDEO]

FPWR is excited to share a new discovery in Prader-Willi Syndrome! Columbia University Medical Center researchers Lisa Burnett, PhD, and Rudolph Leibel, PhD, have published a breakthrough discovery in the Journal of Clinical Investigation that changes our understanding of PWS and opens up new avenues for therapeutic development.

Topics: Research

De-Risking PWS Drug Development Through Preclinical Screening

Any drug development process proceeds through several stages in order to produce a drug that is safe, efficacious, and has passed all regulatory requirements. The discovery phase converts what we have learned about the causes and the biology of the disease through basic research into new drug candidates.

Before drug candidates can be tested in humans, they need to show they are safe and efficacious in animal models of the disease. This second phase, called preclinical stage, requires developing animal models that recapitulate at least some of the features or mechanisms of the disease for which the drug has been developed. When successful, drug candidates are typically tested in humans in clinical trials through three phases namely I,II and III before approval. A drug that is shown to be safe and effective in these three phases can be approved and marketed to the public.

Topics: Research

Identifying the Neurobiology Behind Sleep Issues in PWS

Sleep disturbances and daytime sleepiness severely impact the quality of life for many with PWS, as well as their parents and caregivers. Within the Global PWS Registry, about 50% of respondents report that their loved one suffers from excessive daytime sleepiness.

Dr. Thomas Scammell's group at Harvard Medical School is working to help identify the underlying neurobiology behind sleep issues in PWS. They're exploring how reduced function of neurons in the hypothalamus region of the brain may significantly contribute to daytime sleepiness in a project titled "Wake promoting effects of oxytocin."

Topics: Research

Oxytocin Improves Feeding and Social Interaction in Babies with PWS

Dr. Maithe Tauber and colleagues at the University of Toulouse Hospital in France have published the findings of a study evaluating the effects of intranasal oxytocin treatment on infants with Prader-Willi syndrome (PWS) in a paper titled The Use of Oxytocin to Improve Feeding and Social Skills in Infants with Prader-Willi Syndrome

Topics: Research

Topics: Research

Studying a Novel Model of Adult-Onset SNORD116 Deletion in Mice

In contrast to many rare diseases that can be traced to a single gene, PWS involves a region of DNA that encompasses numerous genes. A lot of PWS research is centered around trying to connect the dots between the genes in the PWS region and the actual symptoms of PWS.

Having a roadmap like this would then allow for a more targeted approach to developing therapies that address the cause of hyperphagia or other areas of highest priority.

Topics: Research

The Value of Patient Input and Perspective in Drug Development

Janet Woodock, MD, Director of the Center for Drug Evaluation and Research at the FDA, recently highlighted how the FDA is placing a high priority on patient input and perspective in the drug development process. The agency recognizes that patients, families, and caregivers are true experts in their disease or syndrome. They have valuable knowledge and information that is being incorporated into the drug review and approval process.

Insights into biggest burdens, priorities for improving quality of life, and risk tolerance are important for accurately representing the the patients perspective when evaluating risk versus benefit of a potential therapy. Members of the FPWR research team were able to see Dr. Woodcock speak at the recent NORD Rare Disease and Orphan Drug Breakthrough Summit in Arlington Virginia.

Topics: Research

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