March, 2017
Please Join the Orphan Disease Center and Global Genes on Friday, May 19th for the 2017 Rare Patient Advocacy Symposium in Philadelphia! Click below to register, space is limited!
More info:
http://www.med.upenn.edu/orphandisease/
https://globalgenes.org/
Summary:
APBDRF 5-4-17 Summary of APBD research jl1ok2
February, 2017
The Case for Guaiacol
On February 28, 2017 Dr. Wyatt Yue gave a 5-minute “Lightning Round” presentation about the repurposing of Guaiacol at the Findacure conference in London. He gave attributions to Dr. Orhan Akman and Dr. Or Kakhlon. You can see the presentation below.
Prof. Wyatt Yue Associate Professor, University of Oxford
Repurposing guaiacol for the treatment of adult polyglucosan body disease (slides / video)
With deep appreciation the APBDRF acknowledges the @findacure_fnd @Nick_Sireau and Rick Thompson for their exemplary leadership in raising awareness and supporting rare disease research.
https://www.cambridgenetwork.co.uk/news/existing-drugs-key-treating-rare-diseases-cambridge-charity/
September, 2016
APBDRF Film “Life through a lens” will screen at WILLiFEST
Sunday, September 11, 2016
See you in Williamsburg
Knitting Factory
Documentary Block
12:30pm – 2:30pm
Listen (Music Video)
Antarctica
Nowhere
Muir Song
Underground Notes
Life Through A Lens
NYChapters: Jerry
Diary of a Girl
Tuesday Dinners
Juana and Cande: A Dominican Family Portrait
http://willifest.com/2016/schedule
August, 2016
NORD Announces 20 Rare Disease Patient Groups Selected to Develop Natural History Studies as Part of FDA Cooperative Agreement
NORD, the leading, independent nonprofit organization committed to helping people and families affected by rare diseases, today announced the 20 patient groups that will be given the opportunity to develop a natural history study, funded in part by a cooperative agreement with the FDA, through NORD’s Natural History Study research platform.
“Our goal is for the 1 in 10 Americans with rare diseases, most of whom are children, to have a treatment and cure, and we developed NORD’s Natural History Study platform to eliminate challenges standing in the way of that target,” said NORD President and CEO Peter L. Saltonstall. “We thank the FDA for its support of NORD and ongoing commitment to rare diseases.”
The 20 patient groups are: Hereditary Neuropathy Foundation, Organic Acidemia Association, XLH Network, Inc., CCHS Family Network, Pitt Hopkins Research Foundation, The OMSLife Foundation, Platelet Disorder Support Association, Global Foundation for Peroxisomal Disorders, APS Type 1 Foundation, Scleroderma Research Foundation, Galactosemia Foundation, Desmoid Tumor Research Foundation, International Pemphigus & Pemphigoid Foundation, The Morgan Leary Vaughan Fund, Adult Polyglucosan Body Disease (APBD) Research, Bridge the Gap-SYNGAP Education and Research Foundation, United Leukodystrophy Foundation, AMENSupport, Lipoprotein(a) Foundation, and Worldwide Syringomyelia & Chiari Task Force.
June, 2016
Dr. Or Kakhlon, of Hadassah-Hebrew University Medical Center and Prof. Miguel Weil, Ph.D. of Tel Aviv University have been awarded a biannual $343,000 grant from the Israel Chief Scientist to study the effect of new compounds in APBD
We are happy to announce that Dr. Or Kakhlon, of Hadassah-Hebrew University Medical Center and Prof. Miguel Weil, Ph.D. of Tel Aviv University have been awarded a biannual $343,000 grant from the Israel Chief Scientist to study the effect of new compounds in APBD modeling mice. The compounds were discovered at The Cell Screening Facility for Personalized Medicine (TAU), using high throughput screening (HTS) processes.
This grant is the largest single grant ever awarded for APBD research, surpassing a 2013 grant from the Association Francaise contre les Myopathies (AFM), which was awarded in 2013.
Recognition and deep thanks to Orly Shani and our sister Israeli charitable organization IsrApbdf for promoting this and other APBD research opportunities.
The APBD community raised $50,000 for the University of Pennsylvania’s Million Dollar Bike Ride for rare disease research.
In addition, we are proud to report that the patients, friends, family members, and colleagues of the APBD community raised $50,000 for the University of Pennsylvania’s Million Dollar Bike Ride for rare disease research. Due to the unique provisions of the event, whereby UPenn matches the fundraising on a dollar-for-dollar basis, grants totaling $100,000 will be awarded on January 1, 2017.
Co-Captains Susan Coddon and Harriet Saxe organized the fundraising efforts and marshaled our 15 dedicated riders in Philadelphia, Pennsylvania, on May 7th.