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What's new in your rare disease | Kisho

Not rare diseases news,
news about your rare disease.

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Research

Recent research highlights the role of METTL16 in m(6)A modification, which regulates the SENP3-LTF axis and ferroptosis in hepatotoxicity induced by Nd(NO₃)₃. This study provides insights into potential therapeutic targets for liver-related conditions.

mettl16 mediated m 6 a modification regulates senp3 ltf axis and ferroptosis in nd no induced hepatotoxicity

PubMed Rare Disease·26 days ago·Read at source →

Original title: “METTL16-mediated m(6)A modification regulates SENP3-LTF axis and ferroptosis in Nd(NO₃)₃-induced hepatotoxicity.”

Stargardt disease 4 Stargardt disease 3Research

AAO 2026: Optogenetic gene therapy heads to phase 2 trial in geographic atrophy | Eye Care Network - Ophthalmology Times

Gene & Cell Therapy·26 days ago·Read at source →

Research

A systematic review and meta-analysis evaluates the efficacy of Tecovirimat for treating Mpox virus infection in humans. The findings contribute to understanding treatment options for this emerging infectious disease.

efficacy of tecovirimat for the treatment of mpox virus infection in humans systematic review and meta analysis of randomized controlled trials

PubMed Rare Disease·26 days ago·Read at source →

Original title: “Efficacy of Tecovirimat for the Treatment of Mpox Virus Infection in Humans: Systematic Review and Meta-Analysis of Randomized Controlled Trials.”

retinoblastoma hereditary retinoblastoma+1 moreResearch

Recent research highlights a novel approach for retinoblastoma treatment using lipid nanoparticles to co-deliver human RB1 mRNA and triptolide. This localized genetic therapy aims to enhance therapeutic efficacy against this aggressive childhood cancer.

lipid nanoparticle mediated co delivery of human rb1 mrna and triptolide for localized genetic therapy of retinoblastoma

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Lipid nanoparticle-mediated co-delivery of human RB1 mRNA and triptolide for localized genetic therapy of retinoblastoma.”

Research

Digestive Lipases as Therapeutic Targets in Obesity: From Orlistat to Next-Generation Inhibitors.

PubMed Rare Disease·27 days ago·Read at source →

Weil's disease Alzheimer disease+1 moreResearch

Primary anetoderma as a possible preclinical cutaneous clue of Behçet's disease: evidence suggesting early microvascular-driven dermal elastolysis.

PubMed Rare Disease·27 days ago·Read at source →

human granulocytic anaplasmosisResearch

A recent study highlights the diagnostic potential of a digital cell morphology system for detecting human granulocytic anaplasmosis through microscopic blood smear examination. This research could enhance diagnostic accuracy for this rare disease.

diagnostic value of microscopic blood smear examination using a digital cell morphology system for human granulocytic anaplasmosis

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Diagnostic value of microscopic blood smear examination using a digital cell morphology system for human granulocytic anaplasmosis.”

Research

Recent research highlights the complexities of parathyroid pathology, shedding light on the significant role these small glands play in calcium regulation and bone health. The findings raise important questions about the underlying mechanisms of parathyroid disorders.

parathyroid pathology uncovered tiny glands big questions

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Parathyroid Pathology Uncovered: Tiny Glands, Big Questions.”

HIV-associated nephropathy HIV wasting syndrome+1 moreResearch

Research identifies encleistoids A-M, a series of C-ring aromatized ent-cleistanthane diterpenoids, exhibiting anti-HIV activity derived from two Phyllanthaceae species. This discovery may contribute to future therapeutic strategies against HIV.

encleistoids a m c ring aromatized ent cleistanthane diterpenoids with anti hiv activity from two phyllanthaceae species

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Encleistoids A-M, C-ring aromatized ent-cleistanthane diterpenoids with anti-HIV activity from two Phyllanthaceae species.”

facioscapulohumeral muscular dystrophy facioscapulohumeral muscular dystrophy 2+1 moreResearch

Recent research combines qualitative and quantitative MRI to demonstrate short-term progression in facioscapulohumeral muscular dystrophy. This study enhances understanding of disease progression, which could inform future therapeutic strategies.

combined qualitative and quantitative mri reveals short term progression in facioscapulohumeral muscular dystrophy

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Combined qualitative and quantitative MRI reveals short-term progression in facioscapulohumeral muscular dystrophy.”

Research

A 20-year multicampus retrospective cohort study investigates pulmonary and pleural schwannomas, providing insights into their clinical characteristics and outcomes. This research contributes to the understanding of these rare tumors and may inform future treatment approaches.

pulmonary and pleural schwannomas a 20 year multicampus retrospective cohort study

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Pulmonary and pleural schwannomas: a 20-year multicampus retrospective cohort study.”

hereditary spastic paraplegia spastic paraplegia-glaucoma-intellectual disability syndrome+1 moreResearch

A case report details two siblings with spastic paraplegia and psychomotor retardation linked to HACE1 gene variants. This study contributes to the understanding of genetic factors in rare neurological disorders.

two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with hace1 variants a case report and literature review

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants: A case report and literature review.”

gastric cancer hereditary gastric cancer+1 moreResearch

A recent case report analyzes immune-related pancreatitis induced by anti-PD-1 antibody therapy in a patient with gastric cancer. This study highlights potential adverse effects of immunotherapy, emphasizing the need for awareness among clinicians.

analysis of a case of immune related pancreatitis induced by anti pd 1 antibody therapy for gastric cancer a case report

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Analysis of a case of immune-related pancreatitis induced by anti-PD-1 antibody therapy for gastric cancer: A case report.”

chronic inflammatory demyelinating polyradiculoneuropathy polyneuropathy, inflammatory demyelinating, chronicResearch

A recent study discusses the use of matching-adjusted indirect treatment comparisons in chronic inflammatory demyelinating polyneuropathy (CIDP). The authors emphasize the need for improved methodologies to interpret current evidence and enhance future studies in this area.

matching adjusted indirect treatment comparisons in chronic inflammatory demyelinating polyneuropathy interpreting current evidence and enhancing future studies

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Matching-adjusted indirect treatment comparisons in chronic inflammatory demyelinating polyneuropathy: interpreting current evidence and enhancing future studies.”

Research

A recent study published in PubMed highlights significant barriers to accessing quality healthcare for patients with rare diseases. The findings emphasize the need for improved healthcare strategies to address these challenges.

understanding barriers to quality healthcare in rare diseases

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Understanding barriers to quality healthcare in rare diseases.”

IgG4-related kidney diseaseResearch

Recent research establishes treatment standards for IgG4-related kidney disease, providing clarity on management strategies. This advancement aims to improve patient outcomes and guide clinical practice.

igg4 related kidney disease treatment standard

PubMed Rare Disease·27 days ago·Read at source →

Original title: “IgG4-related kidney disease: treatment standard.”

ventricular fibrillationResearch

A recent study highlights the role of PRKAG2 mutations in causing ventricular fibrillation in patients with PRKAG2 cardiomyopathy, suggesting a genetic substrate for arrhythmias beyond the known Wolff-Parkinson-White syndrome. This research could inform future genetic screening and management strategies for affected individuals.

ventricular fibrillation in prkag2 cardiomyopathy a genetic arrhythmia substrate beyond wolff parkinson white

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Ventricular Fibrillation in PRKAG2 Cardiomyopathy: A Genetic Arrhythmia Substrate Beyond Wolff-Parkinson-White.”

Research

A case report details a patient with relapsed/refractory primary bone marrow lymphoma (PBML) who experienced complications from failed platelet implantation and mixed infection following allogeneic hematopoietic stem cell transplantation (allo-HSCT). This study contributes to the understanding of post-transplant complications in PBML patients.

relapsed refractory pbml complicated with failed platelet implantation and mixed infection after allo hsct a case report

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Relapsed/refractory PBML complicated with failed platelet implantation and mixed infection after allo-HSCT: A case report.”

hypoglossal nerve disorder hypoglossal nerve neoplasmResearch

A case report details a rare instance of retro-odontoid calcium pyrophosphate deposition pseudotumor leading to isolated hypoglossal nerve palsy. This finding contributes to the understanding of neurological complications associated with calcium pyrophosphate deposition.

retro odontoid calcium pyrophosphate deposition pseudotumor presenting with isolated hypoglossal nerve palsy a case report

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Retro-Odontoid Calcium Pyrophosphate Deposition Pseudotumor Presenting with Isolated Hypoglossal Nerve Palsy: A Case Report.”

neurodegenerative diseaseResearch

New research highlights the challenges in identifying and validating targets for small molecules aimed at addressing protein misfolding and aggregation in neurodegenerative diseases. This study underscores the complexity of developing effective therapies for these conditions.

targeting protein misfolding and aggregation in neurodegenerative diseases challenges for the identification and validation of targets for small molecules

PubMed Rare Disease·27 days ago·Read at source →

Original title: “Targeting protein misfolding and aggregation in neurodegenerative diseases: challenges for the identification and validation of targets for small molecules.”

Previous44 / 481Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Recent research highlights the role of METTL16 in m(6)A modification, which regulates the SENP3-LTF axis and ferroptosis in hepatotoxicity induced by Nd(NO₃)₃. This study provides insights into potential therapeutic targets for liver-related conditions.

AAO 2026: Optogenetic gene therapy heads to phase 2 trial in geographic atrophy | Eye Care Network - Ophthalmology Times

A systematic review and meta-analysis evaluates the efficacy of Tecovirimat for treating Mpox virus infection in humans. The findings contribute to understanding treatment options for this emerging infectious disease.

Recent research highlights a novel approach for retinoblastoma treatment using lipid nanoparticles to co-deliver human RB1 mRNA and triptolide. This localized genetic therapy aims to enhance therapeutic efficacy against this aggressive childhood cancer.

Digestive Lipases as Therapeutic Targets in Obesity: From Orlistat to Next-Generation Inhibitors.

Primary anetoderma as a possible preclinical cutaneous clue of Behçet's disease: evidence suggesting early microvascular-driven dermal elastolysis.

A recent study highlights the diagnostic potential of a digital cell morphology system for detecting human granulocytic anaplasmosis through microscopic blood smear examination. This research could enhance diagnostic accuracy for this rare disease.

Recent research highlights the complexities of parathyroid pathology, shedding light on the significant role these small glands play in calcium regulation and bone health. The findings raise important questions about the underlying mechanisms of parathyroid disorders.

Research identifies encleistoids A-M, a series of C-ring aromatized ent-cleistanthane diterpenoids, exhibiting anti-HIV activity derived from two Phyllanthaceae species. This discovery may contribute to future therapeutic strategies against HIV.

Recent research combines qualitative and quantitative MRI to demonstrate short-term progression in facioscapulohumeral muscular dystrophy. This study enhances understanding of disease progression, which could inform future therapeutic strategies.

A 20-year multicampus retrospective cohort study investigates pulmonary and pleural schwannomas, providing insights into their clinical characteristics and outcomes. This research contributes to the understanding of these rare tumors and may inform future treatment approaches.

A case report details two siblings with spastic paraplegia and psychomotor retardation linked to HACE1 gene variants. This study contributes to the understanding of genetic factors in rare neurological disorders.

A recent case report analyzes immune-related pancreatitis induced by anti-PD-1 antibody therapy in a patient with gastric cancer. This study highlights potential adverse effects of immunotherapy, emphasizing the need for awareness among clinicians.

A recent study discusses the use of matching-adjusted indirect treatment comparisons in chronic inflammatory demyelinating polyneuropathy (CIDP). The authors emphasize the need for improved methodologies to interpret current evidence and enhance future studies in this area.

A recent study published in PubMed highlights significant barriers to accessing quality healthcare for patients with rare diseases. The findings emphasize the need for improved healthcare strategies to address these challenges.

Recent research establishes treatment standards for IgG4-related kidney disease, providing clarity on management strategies. This advancement aims to improve patient outcomes and guide clinical practice.

A case report details a rare instance of retro-odontoid calcium pyrophosphate deposition pseudotumor leading to isolated hypoglossal nerve palsy. This finding contributes to the understanding of neurological complications associated with calcium pyrophosphate deposition.

New research highlights the challenges in identifying and validating targets for small molecules aimed at addressing protein misfolding and aggregation in neurodegenerative diseases. This study underscores the complexity of developing effective therapies for these conditions.

Not rare diseases news,
news about your rare disease.