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