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Tag: Genetic Disorders

Dersimelagon Beneficial for Erythropoietic, X-Linked Protoporphyria

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Dersimelagon at doses of 100 and 300 mg increases duration of symptom-free sunlight exposure versus placebo

Hereditary Angioedema Remains Challenge to Diagnose, Treat

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Respondents cite economic issues related to treatment, which can be compounded for patients living in rural areas

FDA Approves First Treatment for Rett Syndrome

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Approval of Daybue applies to adults and children aged 2 years and older

Genetic Diseases Associated With 41 Percent of Infant Deaths

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Treatments that can improve outcomes were available for 30 percent of these genetic diseases

Rare Coding Variants May Influence Cognition in Schizophrenia

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Ultrarare constrained variants associated with reduced cognition in schizophrenia, independent of premorbid IQ

FDA Approves First Treatment for Acid Sphingomyelinase Deficiency

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The enzyme replacement therapy is administered through an intravenous infusion and approved for both adult and pediatric patients

Genetic Alterations ID’d in Many Pediatric Solid Tumors

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86 percent of extracranial solid tumors in pediatric patients had genomic alterations with potential for impact on care

Vijoice Granted First Approval for Treatment of PROS

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Real-world data show 27 percent of patients with PIK3CA-related overgrowth spectrum treated with Vijoice had radiological response at 24 weeks

Gene Therapy Potentially Curative for β-Thalassemia

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Transfusion independence, near-normal Hb levels seen for most children and adults receiving beti-cel for non-β00 genotype β-thalassemia

Protocol Examined for Returning Results in Genomic Research

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Among participants in a biobank found to be carrying pathogenic or likely pathogenic variants, 76.3 percent unaware of these research results