Tag: Genetic Disorders

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

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

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

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

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

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

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

Transfusion independence, near-normal Hb levels seen for most children and adults receiving beti-cel for non-β⁰/β⁰ genotype β-thalassemia

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

When given more information, almost half of research participants who initially refused opted to accept secondary genetic findings