Research Blog
More hopeful news for older individuals with neurodevelopmental disorders
Once again, there's been a signficant shift in scientific thinking about the fixed nature of brain development. The idea that the brain can't be changed after early childhood has been turned on its head in the past few years, and a new research study demonstrates how just how important that might be for the neurodevelopmental disorder, Fragile X syndrome (FXS). FXS is a genetic disorder, caused by disruption of a gene on the X-chromosome, that results in intellectual disability, behavioral problems, seizures and a high incidence of autism/autistic-like behaviors...
PWS-InnoCentive Research Challenge is Live!
Here's a blog from FPWR Board member Shawn Johnson about the "PWS Research Challenge: Advancing Appetite and Satiety Research", which FPWR has launched in collaboration with InnoCentive. Shawn championed the idea of a crowdsourcing approach to generate new insight into hyperphagia in PWS:
The Foundation for Prader-Willi Research was founded on the simple yet powerful belief that through research, the challenges of PWS can be eliminated and that this research is so important to improving our children’s lives. It’s this belief that initially drew me to FPWR and continues to motivate me to do whatever it takes to help my daughter Ellie and others with PWS...
Oxytocin as a promising potential treatment in PWS: An opportunity to help advance the next step
Oxytocin is a hormone that has a number of important functions. It gets thing rolling in childbirth – sending moms into labor, but also helping set the stage for the bonding that will occur in the newborn period...
Web resources for learning about genetics and translational research
Even if you never thought of yourself as a science nerd, it’s worthwhile for parents of children with rare diseases to become educated about the research and the drug development process (when you’re not attending to the thousand other things you need to learn to care for your child!). Here are a couple of resources to help:
The Genetic Alliance has a new web resource that has a wealth of information on “Translational Research”. Translational research is the work that takes observations about diseases in the research laboratory and turns them into therapies that are useful to patients. It’s typically a long, nonlinear path with many challenges to be considered and overcome. That pathway, with all its twists and turns, is reflected in the Genetic Alliance’s tool: Navigating the Ecosystem of Translational Science – NETS [see the intro, NIH Strategic Plan for Obesity Research
In case you missed it, the National Institutes of Health (NIH) released its 2011 Strategic Plan for Obesity Research, which will serve as a guide to accelerate research into understanding and treating obesity. Two versions (summary and full) are available for download on the NIH Obesity Research site. The “full” version is directed towards the scientific community, but it’s not overly technical and worth reading if you have an interest.
Because this document may also serve as a guide for research funding priorities, we are particularly grateful to Jim Kane (dad to Kate), who spearheaded an effort to collect input from the PWS research community and advocacy organizations (PWSA(USA) and FPWR) about additional language and points to include. Thanks also to Dr...
FPWR's 2011 Projects
In 2011, FPWR is pleased to be able to support a diverse group of projects aimed at advancing our understanding of PWS at the molecular level, developing tools that can be used to accelerate research, and examining clinical issues in PWS. The details of the projects, including a summary provided by each investigator, are available here; below is an overview.
Two of this year’s studies will address the underlying molecular biology of PWS. It’s hard to find treatments for PWS when you’re not even sure exactly what’s going on. Studies by Dr. Yeo (Univ Cambridge) and Dr. LaSalle (UC Davis) will focus on advancing our understanding of the structure and function of the PWS critical region on chromosome 15. Dr...
Modafinil improves daytime sleepiness in PWS
“Excessive daytime sleepiness” (EDS) is one of those symptoms of PWS that tends not to get too much attention – although very common, it just doesn’t seem that serious. However, EDS can profoundly undermine success in older children and adults with PWS.
<!--break--> It’s hard to learn anything in school if you can’t stay awake for your classes, and it’s hard to keep a job if you’re constantly falling asleep...
PWS Clinical Guidelines to Download and Share
Dr. Shawn McCandless and the Committee on Genetics at the American Academy of Pediatrics have just published "Clinical Report: Health Supervision for Children with Prader-Willi Syndrome" in the Journal of Pediatrics. The article is available for download (free!) here: [McCandless, 2010]. It gives a nice overview of PWS and diagnostic issues, then provides guidelines for the general pediatrician at all stages from birth through the transition to adulthood.
This should serve as an great resource for pediatricians and general practitioners-- be sure to take a copy to your next visit!
DNA testing to predict scoliosis severity
There has been much talk about the coming of “personalized medicine”, which has been made possible by the sequencing of the human genome as well as more recent studies characterizing millions of common genetic variants (known as “SNPs” in genetics lingo) and associating those variants with simple and complex diseases and disorders. One example of how personalized medicine might be used is provided in the December issue of the journal “Spine” (also described in an msnbc story here). The study [Ward et al, 2010], by a group that has been identifying and studying genes that contribute to scoliosis, validates the use of a panel of 53 genetic markers, in combination with clinical and X-ray data, to ...
FPWR 2010 Conference Wrap-Up
FPWR's annual conference was held Sept 11-13 in Bethesda, MD. We were really fortunate to have some outstanding scientists come and speak with us, and it was a great opportunity to learn about PWS research from those who are doing it. A summary of the events and talks has been posted here.