Penn raises $10 million for 'orphan' disease effort

Posted: July 27, 2011

From the Check Up blog (http://www.philly.com/philly/blogs/healthcare/):

Donations totaling $10 million, mostly from a single anonymous donor, will allow the University of Pennsylvania's Perelman School of Medicine to create an interdisciplinary center focused on finding and disseminating treatments for orphan diseases, the school announced Tuesday.

Each "orphan" disease affects a relatively small number of people - fewer than 200,000 Americans - and that makes them less attractive targets for big pharmaceutical companies than more common maladies offering a bigger potential market.

Penn said there are 7,000 orphan diseases affecting 25 million Americans. Many are caused by genetic mutations and are diagnosed in children.

The Penn Center for Orphan Disease Research and Therapy will lead an international, coordinated effort to attack these diseases. Glen Gaulton, chief scientific officer at the Perelman School, said the new center would help small organizations devoted to a single disease design grants and share scientific information needed to conduct research.

It will also offer a new robotic drug-screening laboratory that will allow researchers to rapidly look for possible treatments among existing compound libraries, including those at pharmaceutical companies.

Gaulton said drug companies are interested in learning whether orphan diseases respond to treatments the companies have already developed. - Stacey Burling

From the Onco Girl blog (http://www.philly.com/philly/blogs/chop/):

The weekend was great! I spent hours in the pool and it felt sooooooo good to do a little swimming.

I was on the Monmouth Barracudas swimming team getting ready for the New Jersey State Championships when I was diagnosed with Ewing's Sarcoma. I remember my first meeting with Dr. Dormans when he told me that I had to get a biopsy and might have cancer. He said that I might have been in my last swim meet. I was crushed. Now that I've had my surgery and am getting back on my feet and in the pool, I keep working Dr. Dormans over every time I see him. He is starting to come around a little about swimming, but he doesn't want me doing the breaststroke because he's afraid it might dislocate my shiny new cobalt chrome hip.

I have news: I don't want to dislocate my hip, either, so no more breaststroke. I hope to get in the pool with my team this fall if Dr. Dormans says it's OK. I'm working hard in physical therapy to get as strong as I can. Hopefully, if I get strong enough and do well with the team, I can compete again.

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