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Laura King Edwards ran a half-marathon as a fifth anniversary nod to her sister’s first race — a 5K school run in 2008 that would be but a happy memory had Taylor King not been diagnosed with Batten disease (CLN1) some two years earlier, and already blind. Fittingly, Edwards — who…
Extracellular vesicles derived from a type of immune cell called macrophage may hold potential as a less-invasive delivery system of TPP1 — the enzyme missing in patients with CLN2 or late infantile Batten disease — to the brain of affected individuals.
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
Pharmaceutical executives rarely make for a sympathetic Hollywood medical drama. But John Crowley did, and in the nearly 10 years since the release of “Extraordinary Measures” — a tearjerker starring Brendan Fraser as Crowley and Harrison Ford as short-tempered scientist Robert Stonehill — biotech has seen a huge transformation, both…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
Neurogene is sponsoring a natural history study to better understand the course of CLN5 and CLN7 disease, two forms of late-infantile Batten disease, and to find meaningful ways of measuring patient outcomes for use in gene therapy trials. The study is running as part of a…
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
Amicus Therapeutics entered a collaboration with Paragon Gene Therapy, a unit of Catalent Biologics, for the production and development of potential gene therapies to tackle lysosomal storage disorders (LSDs), including Batten disease. They will concentrate on advancing gene therapy programs that are at a preclinical…
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