Approach How it works Development Phase Investigators /Company *= FPWR funded Advantages Potential Limitations Genetic Therapies– These therapies seek to activate the PWS region genes on the silent maternal chromosome 15 OR provide critical missing genes OR provide a substitute function for PWS genes. These are early stage projects – optimizing approaches and examining […]
The science of oxytocin (OT) and its potential therapeutic benefit in PWS continues to be a high profile, priority research area for the PWS community and for FPWR. Several studies have taken place investigating oxytocin as a therapeutic for PWS, however, there is still much more we need to know. There is a lot going […]
Oxytocin is a currently a very hot topic in PWS research. It is also a great example of the scientific process in action, with recent results providing complex and sometimes conflicting information. Researchers are working hard to determine if and how intranasal oxytocin and related compounds may benefit those with PWS. We all remain hopeful […]
It’s likely that improper development and/or function of neurons throughout different regions of the brain contributes to many of the characteristics of PWS, including hyperphagia, anxiety, OCD behaviors, sleep disturbances, and temper outbursts. However, it’s very difficult to develop effective therapeutics without first understanding which of the various types of brain neurons are specifically involved […]
A recent publication in Science raises a number of interesting questions regarding the potential for prenatal and perinatal (newborn) therapies in the prevention and treatment of autism spectrum disorder (ASD). This type of treatment would be a decade or more into the future as it would dependent not only on development of the therapy, but […]
The gut-brain connection: bacteria naturally carried in the gut may influence brain chemistry and behavior
Those with PWS often battle a variety of gastro-intestinal (GI) issues. Beyond general GI function and quality of life, there is a growing field of research exploring how GI composition and health is intricately connected to other systems in the body, including immunity and even brain function. A recent paper titled “Microbiota Modulate Behavioral and […]
Considering the complex neurological basis of PWS, one major hurdle in conducting PWS research is obtaining neurons, i.e. studying neurons without taking brain samples. Pluripotent stem cells are a phenomenal resource as they can be coaxed into becoming different cell types in the lab dish for study (neurons, muscle cells, etc). Essentially, stem cells allow scientists to study brain cells from individuals with PWS without the need for brain tissue...
One well established characteristic of PWS is altered development and function of reproductive systems. This can include hypogonadism; under-development of sexual organs, particularly the testes in males; precocious puberty; and infertility. Of these, hypogonadism, or the production of little to no hormones...
FPWR, along with Dr. Jennifer Miller and Janalee Heinemann, Director of Research and Medical Affairs, Prader-Willi Syndrome Association (USA), would like to share a reminder with families: FIRST, DO NO HARM…AN INTERNET WARNING. Janalee Heinemann, MSW [PWSA(USA)], Jennifer Miller, MD [University of Florida], Theresa Strong, PhD [FPWR]...
Important steps toward reactivating the maternal allele in PWS: new study examines how drugs can regulate PWS/AS gene expression
One common question in the PWS community is “isn’t there a way to just ‘turn on’ the silent PWS genes on chromosome 15?” As a reminder, the PWS genes are present but silenced on the maternal (mom’s) chromosome 15 in all people with PWS, regardless of genetic subtype. In theory, if you could ‘turn on’ those maternal PWS genes, you might be able to produce a therapeutic effect. There are a number of researchers working in this area and although simple as a basic concept, the mechanisms underlying this research are very complicated in practice.