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What's new in your rare disease | Kisho

Not rare diseases news,
news about your rare disease.

Every story we pull is tagged to the disease it’s about — so you can filter to your condition and read only what matters.

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urea cycle disorder urea cycle disorder or inherited hyperammonemiaResearch

New research explores human cell-based models for studying the urea cycle, focusing on gene regulation and ureagenesis. These models aim to enhance disease modeling and therapeutic development for urea cycle disorders.

human cell based models for urea cycle research from gene regulation and ureagenesis to disease modeling and therapeutic development

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Human cell-based models for urea cycle research: From gene regulation and ureagenesis to disease modeling and therapeutic development.”

Research

Recent research demonstrates that combined plasmid redesign and transfection optimization can significantly enhance upstream AAV titers while preserving vector quality and in vivo potency. This advancement could improve the efficacy of gene therapies utilizing AAV vectors.

combined plasmid redesign and transfection optimization significantly increases upstream aav titers while maintaining vector quality and in vivo potency

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Combined Plasmid Redesign and Transfection Optimization Significantly Increases Upstream AAV Titers While Maintaining Vector Quality and In Vivo Potency.”

Vogt-Koyanagi-Harada diseaseResearch

A recent case report highlights a rare instance of immune checkpoint inhibitor-induced Vogt-Koyanagi-Harada-like disease, complicated by inflammatory macular neovascularization. This study contributes to the understanding of adverse effects associated with immune therapies.

immune checkpoint inhibitor induced vogt koyanagi harada like disease complicated by inflammatory macular neovascularisation a case report and literature review

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Immune Checkpoint Inhibitor-Induced Vogt-Koyanagi-Harada-like Disease Complicated by Inflammatory Macular Neovascularisation: A Case Report and Literature Review.”

pyonephrosisResearch

A case report details a rare instance of massive unilateral pyonephrosis in a cat, accompanied by extreme leukocytosis. This study contributes to the understanding of this uncommon condition in veterinary medicine.

massive unilateral pyonephrosis with extreme leukocytosis in a cat a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Massive Unilateral Pyonephrosis with Extreme Leukocytosis in a Cat: A Case Report.”

sickle cell disease sickle cell-hemoglobin d disease syndrome+1 moreResearch

Spreading the word on a breakthrough sickle cell therapy - MM+M - Medical Marketing and Media

Treatment & Clinical News·3 months ago·Read at source →

Research

Gene Therapy Could Reverse Genetic Heart Disease, Spare Children from Transplants | Inside Precision Medicine

Gene & Cell Therapy·3 months ago·Read at source →

Sandhoff disease lysosomal storage disease+1 moreResearch

Andelyn Biosciences to develop GM2 gangliosidosis therapy

Gene & Cell Therapy·3 months ago·Read at source →

Research

A systematic analysis for the Global Burden of Disease Study 2023 highlights global and regional progress in reducing the burden of oral conditions from 2019 to 2023. The findings provide insights into trends and disparities in oral health that may inform future research and policy.

global and regional progress towards reduced burden of oral conditions between 2019 and 2023 a systematic analysis for the global burden of disease study 2023

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Global and regional progress towards reduced burden of oral conditions between 2019 and 2023: a systematic analysis for the Global Burden of Disease Study 2023.”

Sandhoff diseaseResearch

Andelyn Biosciences to Implement Curator® Platform to Develop and Manufacture Gene Therapy AAV9-GM2 for Queen's University to Treat GM2 Gangliosidoses - BioSpace

Gene & Cell Therapy·3 months ago·Read at source →

hypotonia-cystinuria syndrome cardiac anomalies-heterotaxy syndromeResearch

Researchers identified a novel homozygous KDM5A variant linked to severe axial hypotonia, seizures, and cardiac anomalies. This discovery enhances understanding of the genetic underpinnings of these conditions.

identification and characterisation of a novel homozygous kdm5a variant associated with severe axial hypotonia seizures and cardiac anomalies

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies.”

diabetic ketoacidosisResearch

A recent study highlights hepatic portal venous gas as an early indicator of nonocclusive mesenteric ischemia in patients with diabetic ketoacidosis. This discovery may enhance diagnostic accuracy and patient management in critical care settings.

hepatic portal venous gas as an early sign of nonocclusive mesenteric ischemia in diabetic ketoacidosis

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Hepatic portal venous gas as an early sign of nonocclusive mesenteric ischemia in diabetic ketoacidosis.”

alveolar echinococcosisResearch

A recent study highlights the emergence of alveolar echinococcosis in Canada, signaling potential risks for the USA. This research underscores the need for increased awareness and monitoring of this parasitic disease.

emergence of alveolar echinococcosis in canada a warning for the usa

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Emergence of alveolar echinococcosis in Canada: a warning for the USA.”

mitochondrial disease HSD10 mitochondrial diseaseResearch

A case report details the anesthetic management of a patient with myoclonic epilepsy with ragged red fibers, a mitochondrial disease. This study contributes to the understanding of anesthetic considerations in patients with rare mitochondrial disorders.

anesthetic management of patient with myoclonic epilepsy with ragged red fibers a mitochondrial disease a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Anesthetic management of patient with myoclonic epilepsy with ragged red fibers, a mitochondrial disease - A case report.”

transverse colon cancer ascending colon cancer+1 moreResearch

A case report highlights mass-forming NSAID-associated colopathy that can mimic right-sided colon cancer. This discovery emphasizes the need for careful differential diagnosis in patients with a history of NSAID use.

mass forming nsaid associated colopathy mimicking right sided colon cancer a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Mass-Forming NSAID-Associated Colopathy Mimicking Right-Sided Colon Cancer: A Case Report.”

Research

A case study highlights the complexities of managing severe acute pancreatitis alongside anterior ST-elevation myocardial infarction in a 28-year-old patient. This report underscores the need for integrated treatment approaches in conflicting medical emergencies.

severe acute pancreatitis with simultaneous anterior st elevation myocardial infarction in a 28 year old navigating conflicting emergencies

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Severe Acute Pancreatitis With Simultaneous Anterior ST-Elevation Myocardial Infarction in a 28-Year-Old: Navigating Conflicting Emergencies.”

Research

Recent research explores the application of artificial intelligence agents in precision medicine, highlighting their potential to enhance treatment personalization. This study contributes to the growing body of knowledge on AI's role in healthcare.

artificial intelligence agents and agentic artificial intelligence applied to precision medicine

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Artificial intelligence agents and agentic artificial intelligence applied to precision medicine.”

solar urticariaResearch

New research explores the role of mast cells in solar urticaria, suggesting that sunlight exposure triggers these cells, leading to photosensitivity reactions. This study may reshape understanding of disease mechanisms in affected patients.

sunlight mast cells and photosensitivity rethinking disease mechanisms in solar urticaria

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Sunlight, mast cells, and photosensitivity: rethinking disease mechanisms in solar urticaria.”

anorexia nervosa prepubertal anorexia nervosaResearch

A case report highlights fatal neurological complications in anorexia nervosa, specifically osmotic demyelination syndrome in the binge-eating/purging subtype. This finding underscores the severe risks associated with this eating disorder.

fatal neurological complications in anorexia nervosa a case report of osmotic demyelination syndrome in the binge eating purging subtype

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Fatal neurological complications in anorexia nervosa: a case report of osmotic demyelination syndrome in the binge-eating/purging subtype.”

Research

A new study presents a high-throughput method for synthesizing DNA fragments through the molecular self-assembly of overlapping oligonucleotides. This advancement could enhance genetic research and therapeutic development.

high throughput synthesis of dna fragments by molecular self assembly of overlapping oligonucleotides

PubMed Rare Disease·3 months ago·Read at source →

Original title: “High-throughput synthesis of DNA fragments by molecular self-assembly of overlapping oligonucleotides.”

Research

Recent research published in PubMed highlights the use of family genetic designs in the Norwegian Mother and Child Cohort Study (MoBa) to gain insights into health and functioning. This study may contribute to understanding genetic influences on various health outcomes.

family genetic designs in moba provide insights into health and functioning

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Family genetic designs in MoBa provide insights into health and functioning.”

Previous153 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

New research explores human cell-based models for studying the urea cycle, focusing on gene regulation and ureagenesis. These models aim to enhance disease modeling and therapeutic development for urea cycle disorders.

Recent research demonstrates that combined plasmid redesign and transfection optimization can significantly enhance upstream AAV titers while preserving vector quality and in vivo potency. This advancement could improve the efficacy of gene therapies utilizing AAV vectors.

A recent case report highlights a rare instance of immune checkpoint inhibitor-induced Vogt-Koyanagi-Harada-like disease, complicated by inflammatory macular neovascularization. This study contributes to the understanding of adverse effects associated with immune therapies.

A case report details a rare instance of massive unilateral pyonephrosis in a cat, accompanied by extreme leukocytosis. This study contributes to the understanding of this uncommon condition in veterinary medicine.

Spreading the word on a breakthrough sickle cell therapy - MM+M - Medical Marketing and Media

Gene Therapy Could Reverse Genetic Heart Disease, Spare Children from Transplants | Inside Precision Medicine

Andelyn Biosciences to develop GM2 gangliosidosis therapy

A systematic analysis for the Global Burden of Disease Study 2023 highlights global and regional progress in reducing the burden of oral conditions from 2019 to 2023. The findings provide insights into trends and disparities in oral health that may inform future research and policy.

Andelyn Biosciences to Implement Curator® Platform to Develop and Manufacture Gene Therapy AAV9-GM2 for Queen's University to Treat GM2 Gangliosidoses - BioSpace

Researchers identified a novel homozygous KDM5A variant linked to severe axial hypotonia, seizures, and cardiac anomalies. This discovery enhances understanding of the genetic underpinnings of these conditions.

A recent study highlights hepatic portal venous gas as an early indicator of nonocclusive mesenteric ischemia in patients with diabetic ketoacidosis. This discovery may enhance diagnostic accuracy and patient management in critical care settings.

A recent study highlights the emergence of alveolar echinococcosis in Canada, signaling potential risks for the USA. This research underscores the need for increased awareness and monitoring of this parasitic disease.

A case report details the anesthetic management of a patient with myoclonic epilepsy with ragged red fibers, a mitochondrial disease. This study contributes to the understanding of anesthetic considerations in patients with rare mitochondrial disorders.

A case report highlights mass-forming NSAID-associated colopathy that can mimic right-sided colon cancer. This discovery emphasizes the need for careful differential diagnosis in patients with a history of NSAID use.

A case study highlights the complexities of managing severe acute pancreatitis alongside anterior ST-elevation myocardial infarction in a 28-year-old patient. This report underscores the need for integrated treatment approaches in conflicting medical emergencies.

Recent research explores the application of artificial intelligence agents in precision medicine, highlighting their potential to enhance treatment personalization. This study contributes to the growing body of knowledge on AI's role in healthcare.

New research explores the role of mast cells in solar urticaria, suggesting that sunlight exposure triggers these cells, leading to photosensitivity reactions. This study may reshape understanding of disease mechanisms in affected patients.

A case report highlights fatal neurological complications in anorexia nervosa, specifically osmotic demyelination syndrome in the binge-eating/purging subtype. This finding underscores the severe risks associated with this eating disorder.

A new study presents a high-throughput method for synthesizing DNA fragments through the molecular self-assembly of overlapping oligonucleotides. This advancement could enhance genetic research and therapeutic development.

Recent research published in PubMed highlights the use of family genetic designs in the Norwegian Mother and Child Cohort Study (MoBa) to gain insights into health and functioning. This study may contribute to understanding genetic influences on various health outcomes.

Not rare diseases news,
news about your rare disease.