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Showing posts from October, 2012

Highlights from the U.S. Conference on Rare Diseases and Orphan Products

Highlights from the U.S. Conference on Rare Diseases and Orphan Products
Role of Academic Centers, Looming Investment Crisis and More.
Jonathan Leff, MBA, Managing Director, Warburg Pincus, spoke in a special session on "Facing the Crisis in Biomedical Innovation: A Venture Investor's Perspective" on Day 2 of the conference.
Duke University Professor of Pediatrics Priya Kishnani, MD, told a standing-room-only audience the intensely moving story of the development of a treatment for infants and children with Pompe disease.  She focused on collaboration among academic researchers, industry and patient advocacy groups, describing the roles of Duke and Genzyme in developing an enzyme replacement therapy.
Lisa Coles, PhD, of the University of Minnesota's Center for Orphan Drug Research, described the expanding role of academic centers in drug discovery and development for rare disease R & D.  She presented strategies related to discovery of new chemical entities and drug …

Important upcoming Events Get involved!

Important upcoming Events Get involved!
A Charity Paintball Game to benefit the  American Porphyria Foundation November 4, 2012 9:00 am. @ Paintball Explosion Park 601 Dundee av., East Dundee, Illinois 60118 For more info go to
Boston Patient Meeting with Dr. Peter V. Tishler &  Dr. Herbert Bonkovsky You are invited to an American Porphyria Foundation Patient Meeting with Renowned Porphyria Experts Dr. Peter V. Tishler & Dr. Herbert Bonkovsky November 12, 2012, 5:30-8:00 PM EST @Brigham Shapiro Building Shapiro Board Room (First Floor), 70 Francis Street, Boston, MA 02115 For more information go to
APF Exhibit at the American Society of Hematology.  Volunteers needed. The American Porphyria Foundation will host an Exhibit Booth at the Annual American Society of Hematology Convention at the Georgia World Congress Center, Atlanta, GA, December 8-10, 2012. We are in nee…

Please Read and Support Justin Hamilton~CEP

Dim lights Embed A young man in south western Nebraska is battling extremely rare skin condition.

Ever since he was born, Justin Hamilton has had an extremely rare disease that makes him allergic to sun light,

As Nebraskans, we all enjoy the outdoors, and we all take precautions to protect ourselves from the sunlight, whether it is a hat, sunblock, or long sleeve shirts. Justin Hamilton is no exception, but he has to take it to a whole new level.

"You know, I'm 28 years old and a lot of people think I've been in a burn or something with the scarring on my face and my hands, but it's really sunburn. There's something my body that doesn't make to prevent the UV rays from, you know, blister and whatnot,” says Justin Hamilton , Living With Rare Skin Condition.

Justin was born with an extremely rare skin condition called Congenital Erythropoietic Porphyria.
The symptoms are extreme photo sensitivity to sun light that leads to blistering, severe scarring, …

Pharmacy Aligns With Hospitals to Reduce Readmissions

Thinking about our Health in reading in a Health Magazine the following, how will this accept our care, could it help us?  Enjoy reading this like I did and see how you may be able to benefit.  This story is available to be copied and shared by: 
Jacqueline Fellows is an editor for Health Leaders Media.
Pharmacy giant Walgreens announced a program Tuesday that it believes will help hospitals reduce read missions by using pharmacists to coordinate patient care during admission and discharge. Hospitals are under the gun to lower readmission rates since the Centers for Medicare and Medicaid Services (CMS) started assessing financial penalties October 1. At its core, Walgreen's program, called Well Transitions, lifts the burden of medicine reconciliation off of the patient, and off hospital staff.  Exact details about medications are easy for patients to forget, and nurses need the information to do a proper workup, says Joel Wright, Vice President of Health Systems Operations for the ret…

Learn, Be Tested, and get the Help you Need. A Must Read.

The APF is part of a committee which helps address the needs of the undiagnosed. Please take note of the following webinar for Undiagnosed Diseases Program - Community Input webinar 10/17/12 2:30 pm ET Start Time: 10/17/2012 2:30 PM ET Duration: 90 minutes URL: Conference Number(s): 1-800-201-2375 Participant Code: 471324 The Office of Rare Diseases Research- NCATS and the National Human Genome Research Institute are hosting a webinar to provide information to the patient community about a new NIH initiative to expand the Undiagnosed Diseases Program (UDP). In addition, significant time will be dedicated to discussing the issues listed below. We will use the information discussed to help in the selection process of clinical sites for the expanded UDP. This webinar is not to solicit new patients nor to answer diagnostic questions. The physical and financial costs of the diagnostic odyssey What are the major barriers to obtaining a diagn…

Annual American Society Of Hematology, We need your help.

The American Porphyria Foundation will host an Exhibit Booth at the Annual  American Society of Hematology Convention at the Georgia World Congress Center, Atlanta, GA, December 8-10, 2012. We are in need of volunteers to help man the Exhibit booth (dates and times are listed below), to educate eight thousand physicians who will attend the meeting.   This is a wonderful opportunity for APF members in the Atlanta area  to educate physicians about porphyria  by distributing pertinent medical  information and share your own experience with the disease.    Together  we can enhance awareness and education of the porphyrias.   If you would like to be a part of this exciting opportunity, please  e-mail Yvette at or call (713) 266-9616.
The booth is ready to open for the 8000  doctors who pass by.
Desiree and Yvette set up the exhibit booth!
Lundbeck visits the APF booth!
Desiree and Marilyn Register
Saturday, December  8th at 11:00 a.m. - 5:00 p.m.              Sunday,…

Get Involved with the APF! It makes you feel Better. How?

Get Involved
Become a member of the American Porphyria Foundation today, and join us in our work for your good health!

When you join the APF, you become an integral part of an organization that empowers patients and helps them on the road to accurate diagnosis, proper care, and some day a cure. Adding your voice to ours makes us all stronger as we address our needs to health care providers, local, state and federal agencies and Congress.

Members of the American Porphyria Foundation receive:

Our quarterly newsletter — news about porphyria research and clinical studies, scientific meetings and member get-togethers, and stories about the doctors working in the porphyria field and about members like you;
Access to the APF In Touch network — the ability to connect with others who share your diagnosis;
Free participation in telephone conference calls with top researchers in the porphyria field;
Knowledge—that you are an important part of keeping reliable medical information about porphyria availab…