Tag: Rare Diseases
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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…
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CPD Gene Mutations Reveal New Path to Rare Congenital Hearing Loss
Introduction: A New Clue in Rare Congenital Hearing Loss A multinational team of researchers has identified mutations in the CPD gene that contribute to a rare form of congenital hearing loss. The findings, published in the Journal of Clinical Investigation, illuminate how a gene long associated with protein modification can also influence the inner ear.…
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UChicago Scientists Link CPD Gene Mutation to Deafness and Identify Potential Treatments
New Discoveries Connect CPD Mutations to Congenital Deafness A multinational team of scientists has identified a gene mutation in CPD that plays a crucial role in a rare form of congenital hearing loss. The collaborative study, conducted by researchers from the University of Chicago, the University of Miami, and several Turkish institutions, was published in…
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CPD Gene Mutations Reveal Cause of Rare Congenital Hearing Loss and Therapeutic Avenues
New Evidence Spots CPD Gene Mutations as a Driver of Congenital Hearing Loss A global team of researchers has identified mutations in the CPD gene as a key factor in a rare form of congenital hearing loss. The study, conducted by scientists from the University of Chicago, the University of Miami, and several Turkish institutions,…
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Isla Steed and the World of CHOPS Syndrome: A Rare Genetic Journey
Understanding CHOPS: A Rare Genetic Diagnosis CHOPS is a rare genetic syndrome whose acronym captures its core features: cognitive impairment and coarse facial features; heart defects; obesity; pulmonary problems; short stature and skeletal abnormalities. Discovered only in 2015, CHOPS has affected a tiny number of people worldwide, with just a handful in Australia. For families…
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CHOPS Syndrome: The Australian Case and Global Drive for Rare-Disorder Awareness
Overview: A rare diagnosis with a global footprint Isla Steed is a 14-year-old from Port Lincoln, South Australia, whose life highlights the human side of an extremely rare genetic condition known as CHOPS. Short for cognitive impairment and coarse facial features; heart defects; obesity; pulmonary problems; and short stature and skeletal abnormalities, CHOPS is a…