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FBIO

Fortress Biotech

$2.80 /

-0.11 (-3.78%)

08:20
06/11/20
06/11
08:20
06/11/20
08:20

Fortress Biotech announces publication of study on prevalence of Menkes disease

Fortress Biotech announced the publication of a study, "Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database," in Molecular Genetics and Metabolism Reports. The study was published online in June 2020 and will be published in the print edition of the journal in September 2020. The study evaluated the prevalence of Menkes disease, an often lethal, if untreated, X-linked recessive disorder of copper metabolism caused by mutations in ATP7A, an evolutionarily conserved copper-transporting ATPase. Previous estimates of Menkes disease were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507. Led by Stephen G. Kaler, M.D., M.P.H., a physician-scientist in the Center for Gene Therapy in the Abigail Wexner Research Institute at Nationwide Children's Hospital, the authors reviewed the canonical ATP7A transcript in the current version of gnomAD to evaluate frequencies of loss-of-function and pathogenic missense variants in a diverse normal control population. Assuming Hardy-Weinberg genetic equilibrium, the allelic frequency of loss-of-function variants suggests a minimum birth prevalence for Menkes disease of 1 in 34,810 males, higher than previously recognized. If likely pathogenic missense variants are included, the estimated birth prevalence could potentially be as high as 1 in 8,664 live male births.

  • 17

    Jun

FBIO Fortress Biotech
$2.80 /

-0.11 (-3.78%)

04/13/20 B. Riley FBR
AstraZeneca study halt has positive read-through to Fortress, says B. Riley FBR
02/13/20
Fly Intel: Top five analyst initiations
02/12/20 Cantor Fitzgerald
Fortress Biotech initiated with an Overweight at Cantor Fitzgerald
12/18/19 B. Riley FBR
Fortress Biotech initiated with a Buy at B. Riley FBR

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