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.

Burnett and Leibel’s findings suggest that many of the PWS characteristics, such as hyperphagic obesity, low growth hormone and short stature, abnormal blood sugar regulation, decreased sex hormones, hyperghrelinemia, and hypothyroidism, could be due a deficiency of the enzyme prohormone covertase (PC1).

Click below to listen to these researchers explain this exciting discovery: 

 

Dr. Burnett gave an in-depth presentation on this research at the FPWR 2016 conference, shown in this video and blog.

"This study changes how we think about this devastating disorder," said Theresa Strong, chair of FPWR's scientific advisory board and the mother of a child with PWS. "The symptoms of PWS have been very confusing and hard to reconcile. Now that we have an explanation for the wide array of symptoms, we can move forward with developing a drug that addresses their underlying cause, instead of treating each symptom individually."

Thank you to supporters whose donations and fundraising efforts made this research study possible. Together, we will achieve our mission: to eliminate the challenges of Prader-Willi syndrome.

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Topics: Research

Susan Hedstrom

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Susan Hedstrom is the Executive Director for the Foundation for Prader-Willi Research. Passionate about finding treatments for PWS, Susan joined FPWR in 2009 shortly after her son, Jayden, was diagnosed with Prader-Willi Syndrome. Rather than accepting PWS as it has been defined, Susan has chosen to work with a team of pro-active and tireless individuals to accelerate PWS research in order to change the natural history of PWS. Inspired by her first FPWR conference and the team of researchers that were working to find answers for the syndrome, she hosted her first One SMALL Step walk in 2010 and began the development of the One SMALL Step walk program which now raises over $1.5 million a year for PWS research.

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