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Genetic Linkage

Gene Therapy and September Scenes

Hannah Sames and Steve Gray, PhD, the researcher who developed the viral vector to treat her nervous system disease.
Last week I gave an invited lecture at Georgia College, “Gene Therapy: A Forever Fix”?

I’ve given the talk many times, since my book The Forever Fix was published in 2012, but this was the first time I didn’t cry. That’s because the first children who have received gene therapy are showing signs of having a future.  Read More 
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Pulling the Plug on the First Gene Therapy Drug

2017 is supposed to be the year that FDA finally approves a gene therapy. But last week, the company behind the first approved gene therapy in Europe, UniQure, announced that it won't “pursue the renewal of marketing authorization” that expires October 25.

What happened? Is the move a setback for gene therapies in the pipeline? I don’t think so.
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After Gene Therapy: Hannah’s Journey Continues

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Thirteen-year-old Hannah Sames looked beautiful a few weeks ago at the annual Hannah’s Hope Fund gala near her hometown and mine. She’d put on 15 pounds since her gene therapy for giant axonal neuropathy (GAN) 9 months ago. Hannah wheeled around the teen-packed ballroom, her kinky tendrils draping her smile, chatting with guests.

I looked at her in wonder. Were the extra pounds a response to gene therapy, or just a normal adolescent growth spurt? Were her new abilities to pull herself up from a sitting position and to pick up a crouton with her fingers a consequence of subconsciously trying harder? Or were they, too, due to the 120 trillion gene-bearing viruses sent into the fluid bathing her spinal cord?

It’s too soon to tell.  Read More 
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Rare Disease Day 2017: Talia's Story

Talia Duff with Cynthia the Hippo
This year for Rare Disease Day – February 28th – DNA Science honors Cure CMT4J: Advancing Gene Therapy for Rare Diseases, run by Jocelyn and John Duff. Their daughter Talia’s “diagnostic odyssey” was unusually long because Down syndrome obscured a second condition, an extremely rare form of Charcot-Marie-Tooth (CMT) disease. Read More 
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Genetics in 2016: Breakthrough, Breakdown, and Bridge

I dislike end-of-year "best of" lists, especially the "breakthroughs" that imply scientific discoveries and medical advances emerge from out of nowhere. Often they're the product of PR machines that select and then catapult certain research findings into the news releases that dictate the headlines.

WHAT MAKES SCIENCE NEWS?
Much of science news is released to journalists ahead of time (embargoed) so that we can investigate background and conduct interviews. This year, the Food and Drug Administration began offering news even earlier to select media outlets.  Read More 
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Parent Roundtable: Before and After Gene Therapy

Eliza had gene therapy this past spring, and is showing small signs of improvement.
As the revamped 21st Century Cures Act winds its way through the lame duck Congress, I’m reminded of a spellbinding dinner on Sunday night, October 16. It was the eve of the annual "breakthrough summit" for the National Organization for Rare Disorders, and I’d introduced a group of new friends to share their stories of life with a child who has had, or will have, gene therapy. Read More 
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Three Gene Therapies Report Good News

Eliza O'Neill received gene therapy -- a drip into her hand -- in May.
Here’s an update on some of the rare disease families I’ve blogged about as they travel the long and winding road from diagnosis to gene therapy.

The Challenge

The rarity of many single-gene diseases complicates design of clinical trials for any type of treatment. How can researchers recruit a control group, when only a handful of patients have the disease? Many of these conditions affect very young children. Read More 
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Hannah Has Her Gene Therapy For GAN

Hannah Sames and the researcher who created her gene therapy, Dr. Steven Gray.
Last week, 8 years and $8 million fund-raised dollars after the Sames family of Rexford, NY, began their battle against giant axonal neuropathy (GAN), their daughter Hannah finally received gene therapy.

JUST IN TIME
About 120 trillion viruses were injected into the fluid surrounding 12-year-old Hannah’s spinal cord, at the NIH Clinical Center. Each virus carries a working copy of the gene that encodes a protein called gigaxonin. When she awoke, the first thing Hannah said was "I'm hungry!" and soon after posted on Facebook, "I have an amazing family!" Indeed she does.

Although Hannah is the fifth child in the clinical trial, she’s the first whose body doesn’t make the protein at all, thanks to two deletion mutations. She required a separate protocol to suppress her immune system so that it would accept the treatment, which uses the harmless adeno-associated virus to deliver the genes. At one point, it seemed that the clinical trial wouldn't include her, despite the funding from Hannah's Hope Fund. Read More 
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Eliza Gets Her Gene Therapy!

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Keeping a little girl at home for 722 days may seem cruel, but for the O’Neill family, it was a demonstration of astonishing bravery and love.

Glenn and Cara O’Neill had isolated their daughter Eliza to protect her from viral infection – which could have disqualified her from receiving gene therapy for Sanfilippo syndrome type A (aka mucopolysaccharidosis Type IIIA or MPS IIIA). Last week, she became patient #1 in Abeona Therapeutics' phase 1/2 clinical trial. Read More 
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Second Gene Therapy Nears Approval in Europe: Lessons for CRISPR?

CRISPR-Cas9 gene editing has been around not even 4 years, and people are avidly discussing its promises and perils. That’s great. But consider the historical backdrop.

April 1, the European Medicine Agency’s (EMA) Committee for Medicinal Products recommended for marketing approval a second gene therapy. “Strimvelis” treats adenosine deaminase severe combined immunodeficiency syndrome (ADA-SCID) and was developed at the San Raffaele Telethon Institute for Gene Therapy in Milan and GlaxoSmithKline. Regulatory approval is expected within a few months.

I wonder how many people realize, especially those fearful of how gene editing might be misused, that the gene therapy that is nearing approval actually entered clinical trials 26 years ago? Read More 
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