NIH Supports Global Genes Project and Jeans/Genes Awareness Efforts
Over the past two years, the Global Genes Project efforts have been highly visible at the NIH for the annual World Rare Disease Day events. In 2012, we presented Dr. Francis Collins and Dr. Steve Groft with a Rare Pictures of Hope™ photo book made by thousands of rare disease advocates. In 2011, Nicole Boice, [...]
Carrier Screening in the Era of Genomic Medicine
“It’s not so bad to find out that you are a carrier…[but] finding out that you are a carrier of SMA [spinal muscular atrophy] from your child dying is the wrong way to do it.” -Deborah Heine, executive director of the Claire Altman Heine Foundation Like many parents of children with rare genetic diseases, Deborah [...]
PARENT DRIVEN RESEARCH – Innovations from the trenches!
A Push to spur more drugs for deadly rare diseases LAURAN NEERGAARD, AP Medical Writer Cassidy Hempel, 6, waves at hospital staff with the help of her mother Chris at the Children’s Hospital and Research Center in Oakland, Calif., Friday, March 18, 2011. Cassidy and twin sister Addison are receiving alternative treatment for Niemann Pick [...]
GLOBAL GENES PROJECT – NEWS AND UPDATES
Global Genes Project E-News It’s a Wrap – Rare Disease Day 2011. DANA POINT, Calif. – The 4th Annual World Rare Disease Day took place February 28, 2011 with a fanfare of activities worldwide! Sponsoring organizations like NORD and Eurordis engaged in more activities and awareness efforts, garnering increased attention and engagement than previous years. [...]
National Institutes Of Health Hosting World Rare Disease Day Event; Dr. Francis Collins To Speak; Wear Jeans!
The National Institutes of Health (NIH) will celebrate the 3rd World Rare Disease Day on February 28, 2011, with a day-long celebration and recognition of the various rare diseases research activities. The event will be held in the Lipsett Amphitheater from 8:30am to 5:15pm. Dr. Francis Collins is expected to speak. A tentative agenda has [...]
Rare Disease Drugs: A $1 Trillion Market?
Matthew Herper The Medicine Show; FORBES November 2010 Right now drugs for rare disorders are the sweet spot of the biotechnology industry. Treatments for illnesses that affect only hundreds of patients can cost $200,000 or more and have built Genzyme into one of biotech’s biggest companies and Alexion and Biomarin into two of its hottest [...]
R.A.R.E. Project's, Jonathan Jacoby to present at FDA Hearing on Rare Disease
On Tuesday, June 29, 2010, and Wednesday, June 30, 2010, FDA’s Office of Orphan Products Development will host a two-day public hearing and Webcast on the Development of Articles for Rare Diseases. This public hearing is intended to gain from health care providers, academia, industry, patients, and other interested persons their perspectives on various aspects [...]
Geoffrey Beene CEO honored by Research America's for medical research advocacy
The Rare Disease Community has a new champion! Geoffrey Beene with it’s Rock Stars of Science initiative will bring attention to the rare disease community during it’s next campaign. The initial campaign was met with much success, promoting some of the communities science rock stars like, Dr. Francis Collins and Dr. Eric Topol. Click here [...]
National Institutes of Health news that caught my eye this week.
Here are a few NIH related items that Children’s Rare Disease Network folks might find interesting. 1. Share your health experiences with NIH! Information gathered will assist the agency in developing and disseminating health, medical, and scientific information to a broader variety of audiences. The request for information may be completed online in English or [...]