Thank you for making #ShowYourStripes a great success this year in honor of Rare Disease Day! This past week, our APBD community did #ShowYourStripes and more than 12 people shared a quote about their hopes and dreams for APBD research [Read More]
A list of resources, information and activities. Click on the text of any of the items listed to go to the website. Government Resources: CDC (Center for Disease Control) WHO (World Health Organization) Rare Disease Organizations Resources: Global Genes NORD [Read More]
Dear Patient Community, Family Members, Cheerleaders, Donors, Researchers and Clinicians: Today is a special day. We have important news to share with you. We are excited to announce that we are one of 30 recipients of a $450,000, two-year Rare [Read More]
The APBD Research Foundation and the Orphan Disease Center, part of the Perelman School of Medicine at the University of Pennsylvania, are pleased to announce the recent winners of two ‘Million Dollar Bike Ride’ research grants. These important research grants will [Read More]
We are honored to have been chosen to participate in this year’s Rare Disease Film Festival to take place May 17th and 18th in New York City*. There were more than a dozen sponsors in 2019, including NORD, Global Genes, [Read More]
The APBD community said, “Let’s Roll!” to the Penn Medicine Orphan Disease Center’s Million Dollar Bike Ride for rare disease research again this year. Our 33-member team, the “Tour de Friends,” participated from locations all over the country in their neighborhoods and in [Read More]
Leading Scientists and Physicians in Neurology Report on Research Progress at 13th Foundation Scientific Advisory Board Meeting The Foundation’s Scientific Advisory Board (SAB) Meeting held on May 5, 2019 brought together an international research team to discuss the latest advances [Read More]
Foundation Interacts with Neurologists at American Academy of Neurology Meeting For the first time, the APBD Research Foundation had an exhibit booth at the American Academy of Neurology (AAN) meeting held this past May in Philadelphia. Each year the AAN [Read More]
New APBD Brochures Available The APBD Research Foundation is proud to announce that we have two updated brochures available online and in print. The physician's booklet gives a detailed overview of APBD for medical professionals, while the general information brochure [Read More]
The APBD Research Foundation and the Penn Medicine Orphan Disease Center are pleased to announce the two winners of 2018 Million Dollar Bike Ride research grants. These important research grants will be applied to two promising studies that are investigating [Read More]
Or Kakhlon and colleagues screened FDA-approved compounds for those able to reduce GYS activity and polyglucosan accumulation in APBD fibroblasts. Guaiacol emerged as a potential candidate from this screen and improved grip strength and increased lifespan in murine APBD models. [Read More]
Gregory Weiss (1947 - 2018) It is with very deep regret that we inform you of the passing today (June 25, 2018) of Gregory Weiss, Founder and President of APBDRF. Make a Memorial Donation I met Gregory thirteen [Read More]
Dr. Wyatt Yue will introduce the @APBDRF documentary “Life Through a Lens“ at our UK premiere screening at the Oxford International Film Festival on Sunday, May 13th 6pm http://www.oxiff.com/life-through-a-lens
APBDRF Board Member David Epstein has been paired with a 3rd year medical student from the University of Maryland. In a program sponsored by Global Genes®, medical students are paired with rare disease patients in an effort to build the [Read More]
Thank you for your interest in joining the APBD Tour De Friends Team in the University of Pennsylvania’s Million Dollar Bike Ride on May 20 to show your support for rare disease research. There are 7,000 rare diseases & disorders [Read More]
Help us, help you! Dear APBD Patient (with confirmed diagnosis): The Foundation can better target research if we hear from the wide APBD community. Recently, we have heard from some of you on APBD diets, possible new health problems, misdiagnosis [Read More]
Greetings from the ODC! Registration for the 2018 5th Annual Million Dollar Bike Ride is now open! Please follow this link to register for the ride, which takes place on Sunday, May 20, 2018. Feel free to share the above [Read More]