Articles of Interest

August 15, 2017
Dr. Edwin Kolodny on the APBDRF Scientific Advisory Board and Karen Grinzaid of JScreen mentioned

http://www.jta.org/2017/08/11/news-opinion/united-states/how-the-jews-nearly-wiped-out-tay-sachsDownload now


April 19, 2017
Critical Considerations for Rare & Orphan Disease Trial Planning

As stakes are higher for both patients and developers, rare disease clinical trials often require specialized approaches and additional attention. Conduct a successful study with best practices from our complimentary white paper, Critical Considerations for Rare & Orphan Disease Trial Planning.

Download now


April 7, 2017
The Cost of Drugs for Rare Diseases Is Threatening the U.S. Health Care System

One of our Ionis antisense oligonucleotide proof of concept projects follows the same mechanism that a breakthrough therapy for SMA just just received approval for by the FDA. The single targeted mutation gets fixed, by splicing in new genetic code. and the the APBD patient could be rescued from the disease.

Here is an article about the potential costs.

https://hbr.org/2017/04/the-cost-of-drugs-for-rare-diseases-is-threatening-the-u-s-health-care-system


April 3rd, 2017
Third Annual Rare Neurological Disease Special Report

Rare Neurological Disease Special Report Neurology Reviews is proud to announce the publication of our third annual Rare Neurological Disease Special Report, a compendium of articles and information covering a wide range of rare neurological diseases.

Rare diseases are not so rare in neurology, as nearly nine out of 10 neurologists have diagnosed a rare disease, and nearly as many believe they have patients who remain undiagnosed. To learn more about rare diseases, read the Rare Neurological Disease Special Report… »»

Read the Special Report


March 21, 2017
Findacure Foundation open call for repurposed drugs

See Dr. Bruce Bloom from Cures Within Reach, who participated as a session moderator at the APBDRF’s December 2017 Scientific Meeting, speak in this video video.

This is an important new repurposed drug initiative from @findacure_fdn –


March 15, 2017
Changing FDA drug approval process

Changing FDA Rules – Click to download


February 9, 2017
Traveling with a Chronic Illness-How to Make it Easier for You and Your Family

https://www.linkedin.com/pulse/traveling-chronic-illness-how-make-easier-you-your-family-carri-levy


February 4, 2017
One Man makes a change in an Orphan Disease

https://www.nytimes.com/2017/02/04/business/his-doctors-were-stumped-then-he-took-over.html?emc=eta1&_r=1


February 1, 2017
Patient centered marketing for Big Pharma

http://www.military-technologies.net/2017/02/01/top-10-pharma-firms-more-likely-to-establish-dedicated-patient-centric-marketing-groups-3/


 

January 24, 2017
Good news/bad news: Only 22 Novel drugs approved by the FDA in 2016

https://cdn.ampproject.org/c/thehill.com/blogs/pundits-blog/healthcare/315909-2016-fda-drug-approval-numbers-what-can-trump-conclude?amp


January 6, 2017
Patient education clinical trial

Trends in Patient-led clinical trials
Patients at the helm:
Putting patients in charge of clinical trials
Click to download

Science Translational Medicine
The study is open: Participants are now recruiting investigators
http://stm.sciencemag.org/content/9/371/eaaf1001.full


December 19, 2016
Glycogen branching enzyme deficiency (glycogen storage disease IV, Andersen disease, APBD)

Click to download


November 21, 2016
Eric and Sonia’s blog: curing prion disease

Eric and Sonia’s blog as a husband and wife team dedicated to curing prion disease a single gene single protein disease.
Although the disease is of course completely different from APBD there are striking similarities in our approach to a cure. They are also trying to down regulate a single protein.

Archives from Eric Vallabh Minikel’s Tweet

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July 21, 2016
Fashion’s Newest Frontier: The Disabled and the Displaced

For years, designers responded to social problems by fund-raising. Now they’re taking it to a new level. Welcome to the world of solution-based design

http://www.nytimes.com/2016/07/21/fashion/solution-based-design-disabled-refugees.html?ref=todayspaper&_r=0


March 6, 2016
Finding parents for orphan diseases — The Jerusalem Post

Rare Diseases Day was marked on February 29. Of some 5,000 of them, about 400 can be treated.Only one individual in the world has ever been diagnosed with an inscrutable fatal genetic disorder known as ribose-5-phosphate isomerase deficiency, making…

Read full article:
http://www.jpost.com/Business-and-Innovation/Health-and-Science/Finding-parents-for-orphan-diseases-446993


January 6, 2016
Regulatory drug approval process

New “21st Century Cures” Legislation Speed and Ease vs Science
http://jamanetwork.com/journals/jama/fullarticle/2597296

Early Development Considerations for Innovative Combination Products
http://www.fda.gov/RegulatoryInformation/Guidances/ucm126050.htm

Draft Guidance for Industry, Researchers, Patient Groups, and Food and Drug Administration Staff
Meetings with the Office of Orphan Products Development
Click to download

IND vs. No IND
http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM229175.pdf
Click to download

 


January 6, 2017
Patient education clinical trial

Trends in Patient-led clinical trials
Patients at the helm:
Putting patients in charge of clinical trials
Click to download

Science Translational Medicine
The study is open: Participants are now recruiting investigators
http://stm.sciencemag.org/content/9/371/eaaf1001.full