Tag: Rare Diseases
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Gene Therapy Brings Hope for Child with Rare Parkinson’s
Hope Emerges from a Groundbreaking Gene Therapy In Singapore, a breakthrough in pediatric neuroscience is offering renewed hope to families affected by a rare Parkinson’s-like disease. A young patient, diagnosed soon after birth with a neurodegenerative condition characterized by stiffness, seizure-like episodes, and impaired motor and speech development, became the focus of an ambitious gene…
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Gene Therapy Brings Hope: Child with Rare Parkinson’s Disease Shows Remarkable Recovery
Hope Emerges from a Groundbreaking Gene Therapy In Singapore, a medical breakthrough has offered new optimism for families affected by a rare form of Parkinson’s disease in children. A successful gene therapy intervention has shown meaningful improvements in motor function, communication, and daily living activities for a young patient, sparking conversations about expanding access to…
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Rare Skin Condition in Singaporean Girl Highlights Bullying and the Need for Awareness
Understanding the Condition Behind the Marks A rare skin condition affecting a nine-year-old in Singapore has drawn attention to how physical differences can impact a child’s daily life. While the specific diagnosis remains private for the family, experts say that such conditions can cause marks or patches that differ in color from surrounding skin. In…
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EU Considers First Gene Therapy for Wiskott-Aldrich Syndrome: Waskyra
EU Moves Toward First Gene Therapy for Wiskott-Aldrich Syndrome The European Medicines Agency (EMA) has recommended granting marketing authorization in the European Union for Waskyra (etuvetidigene autotemcel), a gene therapy designed to treat people aged 6 months and older with Wiskott-Aldrich syndrome (WAS) who carry mutations in the WAS gene. If approved, Waskyra would become…
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First EU Approval Consideration for WAS Gene Therapy: Waskyra (etuvetidigene autotemcel)
What is Waskyra and Who Could Benefit? The European Medicines Agency (EMA) has recommended granting marketing authorisation in the European Union for Waskyra (etuvetidigene autotemcel) to treat people aged 6 months and older with Wiskott-Aldrich syndrome (WAS) who carry a mutation in the WAS gene. Waskyra is a one-time, autologous gene therapy that aims to…
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Sobi to Unveil New One-Year Data on pegcetacoplan’s Efficacy in C3G and IC-MPGN, Plus NASP Outcomes at ASN Kidney Week 2025
Overview of the Upcoming ASN Kidney Week Presentations Stockholm-based biopharmaceutical company Sobi is set to share new clinical data at ASN Kidney Week 2025, taking place from November 5–9. The presentations will focus on pegylated C3 inhibitor pegcetacoplan, marketed as Aspaveli in Europe and Empaveli in the U.S., exploring its one-year efficacy in two rare…
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Portlaoise Boy’s Life-Changing ADA-SCID Gene Therapy Trial Results
Life-Changing Breakthrough for Portlaoise Boy in ADA-SCID Gene Therapy Trial A nine-year-old boy from Portlaoise, Ireland, has witnessed transformative improvements after participating in a landmark medical study targeting ADA-SCID, a rare and life-threatening immune system disorder. The trial, conducted in part at Great Ormond Street Hospital (GOSH) in London, represents a significant milestone in the…
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Long-term success for gene therapy in children with ADA-SCID: a landmark study
Groundbreaking long-term results for ADA-SCID gene therapy A multinational team led by Great Ormond Street Hospital (GOSH), University College London (UCL), and the University of California, Los Angeles (UCLA) has reported the longest follow-up to date for children treated with a gene therapy for ADA-SCID, a rare immune deficiency. The study, published in the New…
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UChicago Scientists Identify CPD Gene Mutation Tied to Deafness and Point to Treatments
Groundbreaking Discovery Links CPD Gene Mutations to Deafness A collaborative team of scientists from the University of Chicago, the University of Miami, and several Turkish institutions has identified a mutation in the CPD gene that is closely linked to a rare form of congenital sensorineural hearing loss (SNHL). The findings, published in the Journal of…
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UChicago Scientists Link CPD Gene Mutation to Deafness and Point to Treatments
New discovery ties CPD gene mutations to a rare form of congenital deafness A collaborative international team of researchers has uncovered a gene mutation in CPD that plays a pivotal role in a rare form of congenital hearing loss. The study, led by scientists from the University of Chicago and the University of Miami, with…