Tag: Rare Diseases
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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…
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How Large Language Models Aid Diagnosis of Rare Hematologic Diseases and Influence Physician Decision-Making
Introduction: Leveraging AI to tackle rare hematologic diseases Rare diseases pose substantial diagnostic challenges due to their low prevalence, diverse presentations, and often multisystem involvement. This study investigates how large language models (LLMs), especially new-generation transformers with chain-of-thought (CoT) capabilities, perform in diagnosing rare hematologic diseases and how their outputs shape physician decision-making in real-world…
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EPG5 Gene Errors Tied to Vici Syndrome and Parkinson’s
New Links Between EPG5 Mutations, Early Neurodevelopment, and Later Neurodegeneration A groundbreaking study connects errors in the EPG5 gene, already known for causing the rare neurodevelopmental disorder Vici syndrome, to later-age neurodegenerative conditions such as Parkinson’s disease and dementia. Published in the Annals of Neurology, the research consortium spanning King’s College London, University College London…