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Genetic Linkage

Progress and a Setback in Treating Rare Genetic Diseases: Hemophilia A, CLN1, SMA, and DMD

In these strange days of the pandemic, it's easy to forget that people are still sick with the illnesses that we've always faced – and not just the common ones like cardiovascular disease and cancer. Times are particularly tough for the millions of people who have rare diseases.

 

Research continues into developing new treatments for rare diseases, despite the current difficulties, with some recent good news. But first, a setback.

 

Hemophilia A: Two More Years of Data Needed

 

On August 18, FDA ruled that a submission for approval of a gene therapy to treat severe hemophilia needs another two years of evidence to demonstrate that the treatment is really a "one-and-done." The agency is seeking data demonstrating "a durable effect using Annualized Bleeding Rate," a metric that the developer, Biomarin, claims had not been brought up prior to submission of the phase 3 findings.

 

Perhaps the extra scrutiny reflects the fact that treatment has been available since 1992 –recombinant clotting factor VIII. And gene therapy has been in the works for awhile. In fact, I interviewed the very first patient to receive gene therapy for hemophilia A, back in 1999. That trial used the same dangerous vector, a retrovirus, to deliver the gene that would kill Jesse Gelsinger later that year and derail the entire field.

 

 

To continue reading, go to DNA Science, where this post first appeared.

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New Book, “Run to the Light,” Chronicles a Journey with Batten Disease

On November 1, Laura King Edwards’s inspiring book “Run To The Light” will be published, by Bedazzled Ink.

The memoir is an astonishing tale of a sister’s love and how she is coping with a tragic and inevitable future for her younger sibling. It’s also the tale of how one family’s activism has led to a gene therapy in development to treat Taylor’s inherited neurological condition.

The book is also about running – blindfolded.

“Run to the Light” sets up the story in just the second sentence: “We found out my little sister was dying on a parched morning in the summer of 2006, just a few weeks shy of her eighth birthday and a month after my wedding.”

To continue reading go to DNA Science Blog, where this post first appeared. Read More 
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