Miscellaneous 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:

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. 

Having just recently announced FPWR’s projects funded in 2010 [see full list here], it’s very exciting to already be able to announce a major advance as a result of that funding.   Dr.

Individuals with PWS have motor difficulties throughout life, with low muscle tone and decreased muscle mass.

There’s a very nice article in the New York Times today [Promise Seen in Drug for Retardation Syndrome] about a human clinical trial testing a drug to improve behavior in those with Fragile X syndrome (FXS), a genetic disorder associated with intellectual disability and behavior problems, among other issues.  The article traces the long path that led to the development of drugs for FXS.   The results of the clinical trial are not yet published and larger studies will

Although it's rarely mentioned in clinical descriptions of PWS, anyone who hangs around families with PWS knows that seizures seem to occur much more frequently in those with PWS than typical individuals. Even in cases where a seizure disorder is never formally diagnosed, many parents have, at one time or another, had their child with PWS evaluated because they appear to be having seizures or unusual movements.

The 6th Annual International Prader-Willi Syndrome Organization (IPWSO) Conference was held in Romania in June 2007. The research abstracts from the conference are available online at the Asociacin Madrile para el Síndrome de Prader-Willi (AMSPW) website.

It's not often that words such as "rescue of neurological deficits", "therapy for cognitive impairment" and "reversal of neurological defects" are used in the titles of papers studying genetic disorders like Angelman, Down, and Rett syndromes, but a recent trio of papers does just that, offering hope for all those with complex neurodevelopmental disorders.

Since it has been suggested by some studies in the medical literature that increased height is associated with higher IQ, one might think that rapid "catch up" growth after a period of nutrition restriction would lead to an improved outcome. A recent study suggests that just the opposite may be true (at least if you're a bird..).