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The first patient in a Phase 1/2 clinical trial of Fabry disease gene therapy candidate FLT190 has been dosed. Enrollment is ongoing at the Royal Free Hospital, in London, U.K. More information and contacts are available here. Fabry disease is caused by a faulty GLA gene, which provides…

A new mutation in the GLA gene was found in a Chinese patient with Fabry disease that leads to low alpha-galactosidase A (alpha-GAL A) activity and correlates with kidney symptoms linked to the disorder. The case report, “Functional evaluation of a novel GLA causative mutation…

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…

Testing alpha-galactosidase A enzyme activity may be a more cost-effective screening method for diagnosing Fabry disease than genetic tests, a study suggests. Titled “Cost Efficacy of α-Galactosidase A Enzyme Screening for Fabry Disease,” the study was published in the journal Mayo Clinic Proceedings. Fabry…

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,…

Analysis of dry blood drops may help diagnose Fabry disease and begin early treatment in patients who are experiencing cardiac, renal, or neurological symptoms of unknown cause, according to a recent study. The diagnostic and risk screening method was proposed by Japanese researchers in the study, “High-risk screening for…

Adolescents and adults with Fabry disease who live in Argentina can now be treated with Amicus Therapeutics’ oral precision medicine Galafold (migalastat). The Agency of Medicines, Food and Medical Devices (ANMAT) in Argentina has approved the use of Galafold as a monotherapy for people ages 16 or older…

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…