Tag: Genetic Disorders
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
Genetic Alterations ID’d in Many Pediatric Solid Tumors
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
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
Transfusion independence, near-normal Hb levels seen for most children and adults receiving beti-cel for non-β0/β0 genotype β-thalassemia
Protocol Examined for Returning Results in Genomic Research
Among participants in a biobank found to be carrying pathogenic or likely pathogenic variants, 76.3 percent unaware of these research results
Handling of Secondary Genetic Findings in Research Examined
When given more information, almost half of research participants who initially refused opted to accept secondary genetic findings
Enzyme Replacement Therapy Approved for Late-Onset Pompe Disease
Patients taking Nexviazyme saw improvements in respiratory function and walking distance measures
