Articles of Interest

March, 2nd 2020
When the hoofbeats really are a zebra’s, a patient community helps me navigate a new rare-disease reality

June 4, 2019
Deadly Falls in Older Americans Are Rising. Here’s How to Prevent Them.

The rate of deaths after falls is rising for people over 75, a new study shows. But falls are avoidable for most seniors. We have some tips.

March 1, 2019
Israeli team develops way to find genetic flaws in fetus at 11 weeks

Researchers at Tel Aviv University say their new noninvasive procedure to find chromosomal abnormalities has a ‘much higher resolution’ than methods used today

February 1, 2019
Scientific American – Inside View: The Remarkable Sense of Antisense

For decades, antisense technology promised to transform the pharmaceutical industry. That moment has now arrived. Dr. Stanley Crooke, a pioneer in the field, explains what’s next.

October 21, 2017
Neurology Now magazine

Here is an article that appeared in the Oct/Nov 2017 issue of Neurology Now magazine. It is called “The Power of Many” and deals with patient registries.It provides a good description and the value of registries. We should share with our community to help spur interest in the NHS project.

Click here to download

September 11, 2017
New Gene-Therapy Treatments Will Carry Whopping Price Tags

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

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

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

February 1, 2017
Patient centered marketing for Big Pharma


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

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

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

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…

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January 6, 2016
Regulatory drug approval process

New “21st Century Cures” Legislation Speed and Ease vs Science

Early Development Considerations for Innovative Combination Products

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
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