This Company Just Provided a Grant for a Niemann-Pick Disease Type C Screening Program
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This Company Just Provided a Grant for a Niemann-Pick Disease Type C Screening Program

According to a story from ir.stockpr.com, the biotechnology company Cyclo Therapeutics, Inc. (previously known as CTD Holdings) has recently thrown its support behind a Niemann-Pick Disease Type C newborn screening…

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ICYMI: Study Shows Efficacy for New Way to Diagnose Rare Forms of Hereditary Angioedema

Hereditary Angiodema Hereditary angioedema (HAE) is a rare disease typically caused by a SERPING1 gene mutation. This protein is responsible for coding for the protein C1-INH. With improper levels of…

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A Teenager was Killed by a Disease so Rare it Didn’t Have a Name, But His Story Could Change the Lives of Others Like Him

According to a story from NBC News, Mitchell Herndon, a 19 year old from Missouri, recently passed away due to the progression of a rare genetic disease that is so…

Continue Reading A Teenager was Killed by a Disease so Rare it Didn’t Have a Name, But His Story Could Change the Lives of Others Like Him
“It Took 23 Years to Find out I Have Fabry Disease:” A Rare Patient Story From The Czech Republic
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“It Took 23 Years to Find out I Have Fabry Disease:” A Rare Patient Story From The Czech Republic

Bohuslav Skoupý had trouble with his kidneys. He even had a transplant. He also had heart problems. In the end, it turned out actually by chance that Fabry disease was…

Continue Reading “It Took 23 Years to Find out I Have Fabry Disease:” A Rare Patient Story From The Czech Republic
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