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
https://www.statnews.com/2020/03/02/patient-community-helps-navigate-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
https://www.timesofisrael.com/israeli-team-develops-way-to-find-genetic-flaws-in-fetus-at-11-weeks//
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.
https://www.scientificamerican.com/custom-media/inside-view-the-remarkable-sense-of-antisense/
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
https://www.nytimes.com/2017/09/11/health/cost-gene-therapy-drugs.html
August 15, 2017
Dr. Edwin Kolodny on the APBDRF Scientific Advisory Board and Karen Grinzaid of JScreen mentioned
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.
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… »»
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
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
http://stm.sciencemag.org/content/9/371/eaaf1001.full
December 19, 2016
Glycogen branching enzyme deficiency (glycogen storage disease IV, Andersen disease, APBD)
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