Tag: Rare Diseases
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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…
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EPG5 Gene Errors Linked to Vici Syndrome and Late-Life Parkinson’s and Dementia Risks
New Evidence Connects EPG5 Mutations Across the Lifespan Researchers are uncovering a surprising link between a gene known for causing a severe infant disorder and neurodegenerative diseases that emerge much later in life. In a study published in the Annals of Neurology, scientists demonstrated that errors in the EPG5 gene, already associated with Vici syndrome,…
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Diaphragmatic Endometriosis: Limerick Woman’s Battle and Hope
Unseen pain,diagnosis delayed Lisa-Claire Walsh’s health journey began in 2015 with neck and shoulder pain that seemed ordinary at first. Over years, the pain intensified, yet medical scans and consultations with orthopaedic surgeons and neurologists failed to reveal a clear cause. “I went to a neurologist, pain consultant, had MRIs, everything, but the pain was…
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Living with OTC Deficiency: Rachelle Yeo’s Journey
Understanding OTC Deficiency Ornithine transcarbamylase (OTC) deficiency is a rare hereditary metabolic disorder that affects how the body eliminates ammonia, a byproduct of protein breakdown. This condition primarily impairs the urea cycle—the process that converts ammonia into urea for excretion through urine. Individuals with OTC deficiency face serious health risks as high levels of ammonia…
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Searching for Answers in Wales’ Rare Disease Cluster
Introduction to DRPLA Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a rare and progressive neurological disorder that has recently gained attention in South Wales due to a disturbing cluster of cases. Once believed to predominantly affect individuals of Japanese descent, a groundbreaking study in 2007 revealed a relatively high prevalence of DRPLA in Wales, particularly…
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Understanding DRPLA: A Rare Disease Impacting Families in Wales
The Rare Condition: DRPLA Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurological disorder that has recently gained attention due to a noticeable cluster of cases in South Wales. Initially thought to primarily impact individuals of Japanese descent, studies have identified a significant prevalence in Welsh communities. This article explores the emotional and physical toll DRPLA takes…