Category: Rarediseases

One Reporter, Four Families, Six Scientists and the Search to Cure a Rare Disease

MEwens
A WSJ reporter followed a group of families and scientists trying to accelerate the development of a drug to treat Niemann-Pick Type C disease, a rare and fatal cholesterol metabolism disorder known as NPC that strikes primarily children.
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Posted in Research, Drugs, Rare diseases, Trials  

Rare Diseases and the Search for a Cure: A Reddit AMA

MEwens
Dr. Christopher Austin and the Journal’s Health reporter Amy Dockser Marcus took questions about treatments for rare disease during a Reddit AMA.
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Robots to Cure Rare Diseases: A Reddit Ask Me Anything (AMA)

MEwens
For years, Christopher P. Austin has been trying to develop a way for science to build a better partnership with patients. Dr. Austin and the Journal’s Amy Dockser Marcus will answer readers’ questions about rare diseases and the research process. They will host a Reddit AMA (short for “Ask Me Anything) at 1 […]

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Posted in Drugs, Rare diseases, Trials  

Staying on Top of Eye-Disease Research and Drug Trials

MEwens
Some practical advice for eye disease patients and their families looking to stay on top of promising drug developments and register for drug trials.
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Do It Yourself Drug Development — With Some Help

MEwens
The effort by two families to buy and develop a drug that holds promise in treating Duchenne muscular dystrophy — described today in the WSJ — is the result of an innovative new model set up to support the burgeoning phenomenon of do-it-yourself drug development.
Before the Seckler and Wicka families bought halofuginone, a […]

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Posted in Drugs, Rare diseases  

Cyclodextrin and Lorenzo’s Oil

MEwens
Could cyclodextrin have a connection to Lorenzo’s Oil?
The WSJ reports today that the compound cyclodextrin, found by accident to be a possible therapy for the rare disease Niemann-Pick Type C, is also being tested in a number of other conditions, including Alzheimer’s disease and HIV.
But there is also interest in seeing if cyclodextrin […]

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Posted in Research, Drugs, Rare diseases  

Should All Newborns Be Screened For Pompe Disease?

MEwens
Nine diseases have been nominated to an HHS advisory committee as possible additions to newborn screening programs. Only two have won the committee’s approval.
But R. Rodney Howell, the chair of the committee, tells the Health Blog that he’d like to see at least one of the conditions that was initially turned down be […]

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Posted in Rare diseases  

 
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