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Tag: Genetic Disorders

Increased Morbidity Risks Seen for Male, Female p.C282Y Homozygotes

Increased risks seen for those with baseline hemochromatosis diagnoses and for those undiagnosed with hemochromatosis

First Gene Therapy for Children With Metachromatic Leukodystrophy Approved by FDA

Approval is for a single-dose gene therapy infusion

Treatment With N-Acetyl-L-Leucine Beneficial for Niemann-Pick Disease

Greater mean change from baseline seen in total score on the Scale for the Assessment and Rating of Ataxia with NALL versus placebo

Whole-Genomic Sequencing Increases Molecular Diagnostic Yield

Genomic sequencing has higher yield than targeted gene sequencing for infants suspected of having genetic disorders

Dersimelagon Beneficial for Erythropoietic, X-Linked Protoporphyria

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

Hereditary Angioedema Remains Challenge to Diagnose, Treat

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

FDA Approves First Treatment for Rett Syndrome

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

Genetic Diseases Associated With 41 Percent of Infant Deaths

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

Rare Coding Variants May Influence Cognition in Schizophrenia

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

FDA Approves First Treatment for Acid Sphingomyelinase Deficiency

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