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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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Daily Briefings

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Research

Quadruple pegRNA enables programmable and efficient large genomic insertion.

PubMed Rare Disease·7 months ago·Read at source →

Research

Multicentre gene therapy for OTOF-related deafness followed up to 2.5 years.

PubMed Rare Disease·7 months ago·Read at source →

Research

Phaeochromocytomas and paragangliomas harbour tumour-initiating SOX2+ stem cells.

PubMed Rare Disease·7 months ago·Read at source →

Research

Aortitis-Associated Left Main Obstruction Requiring Urgent CABG: When Youth Is Not Low Risk.

PubMed Rare Disease·7 months ago·Read at source →

Research

Aortic Root Abscess With Left Atrial Fistula: A Rare and Life-Threatening Complication of Infective Endocarditis.

PubMed Rare Disease·7 months ago·Read at source →

Research

Protein-truncating variants in APBA1 in minors with severe, early-onset obesity: implications for genetic testing.

PubMed Rare Disease·7 months ago·Read at source →

familial lipoprotein lipase deficiencyResearch

Severe hypertriglyceridemia due to lipoprotein lipase deficiency in an infant: pharmacological and nutritional approach.

PubMed Rare Disease·7 months ago·Read at source →

Research

Repaired tetralogy of Fallot: characterization of myocardial fibrosis by magnetic resonance imaging.

PubMed Rare Disease·7 months ago·Read at source →

interstitial lung disease interstitial lung disease 2Research

MDA5-associated juvenile dermatomyositis and interstitial lung disease from rapidly progressive to silent: a report of three cases in South African children and a review of the literature.

PubMed Rare Disease·7 months ago·Read at source →

Research

Fetal ascites caused by ovarian incarceration within an inguinal hernia and development of maternal mirror syndrome.

PubMed Rare Disease·7 months ago·Read at source →

Research

Metabolic Imbalance Triggers Adaptive Remodeling to Accelerate Diploidization in Murine Haploid Embryonic Stem Cells.

PubMed Rare Disease·7 months ago·Read at source →

Research

Outcomes of 544 Patients with t(6;9)/DEK::NUP214 acute myeloid leukemia undergoing allogeneic stem cell transplantation: an EBMT study on behalf of the acute leukemia working party (ALWP) and the pediatric diseases working party (PDWP).

PubMed Rare Disease·7 months ago·Read at source →

Research

Unusual Vascular Anomalies in Pediatric Hand and Plastic Surgery: A Case Series.

PubMed Rare Disease·7 months ago·Read at source →

Weil's disease Alzheimer disease+1 moreResearch

Rare missense variants in MYO7A and OTOP2 genes in a South Korean Meniere's disease cohort.

PubMed Rare Disease·7 months ago·Read at source →

Research

Hsa_circ_0002111 implicates KTC-1 cell motility and modulates migration and invasion via miR-432-5p/CDKN2B axis.

PubMed Rare Disease·7 months ago·Read at source →

Research

DeepFAN, a transformer-based model for human-artificial intelligence collaborative assessment of incidental pulmonary nodules in CT scans: a multireader, multicase trial.

PubMed Rare Disease·7 months ago·Read at source →

Darier diseaseResearch

A recent study critically appraises the efficacy and safety of repurposing anti-inflammatory targeted drugs for Darier disease. This research could inform future treatment strategies for this rare skin condition.

reconsidering efficacy and safety a critical appraisal of repurposing anti inflammatory targeted drugs in darier disease

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Reconsidering Efficacy and Safety: A Critical Appraisal of Repurposing Anti-inflammatory Targeted Drugs in Darier disease.”

Research

A recent study explores haemoptysis caused by right intercostal artery-to-pulmonary artery fistulas, which can mimic cryptogenic haemoptysis. This research contributes to understanding the underlying mechanisms of this rare condition.

haemoptysis caused by right intercostal artery to pulmonary artery fistulas mimicking cryptogenic haemoptysis

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Haemoptysis Caused by Right Intercostal Artery-To-Pulmonary Artery Fistulas Mimicking Cryptogenic Haemoptysis.”

Research

A corrigendum has been issued for the study on maladaptive emergency granulopoiesis, which predicts poor outcomes in patients with decompensated cirrhosis. This research highlights the importance of understanding granulopoiesis in managing cirrhosis-related complications.

corrigendum to maladaptive emergency granulopoiesis predicts poor outcomes in patients hospitalized with decompensated cirrhosis j hepatol 2026 749 765

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Corrigendum to "Maladaptive emergency granulopoiesis predicts poor outcomes in patients hospitalized with decompensated cirrhosis" [J Hepatol (2026) 749-765].”

neurodevelopmental disorder craniosynostosisResearch

New research expands the phenotypic spectrum of ZIC1 variants, linking them to a neurodevelopmental disorder that can present with or without craniosynostosis. This study enhances understanding of the genetic underpinnings of this condition.

expanding the phenotypic spectrum associated with zic1 variants a neurodevelopmental disorder with and without craniosynostosis

PubMed Rare Disease·7 months ago·Read at source →

Original title: “Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosis.”

Previous351 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Quadruple pegRNA enables programmable and efficient large genomic insertion.

Multicentre gene therapy for OTOF-related deafness followed up to 2.5 years.

Phaeochromocytomas and paragangliomas harbour tumour-initiating SOX2+ stem cells.

Aortitis-Associated Left Main Obstruction Requiring Urgent CABG: When Youth Is Not Low Risk.

Aortic Root Abscess With Left Atrial Fistula: A Rare and Life-Threatening Complication of Infective Endocarditis.

Protein-truncating variants in APBA1 in minors with severe, early-onset obesity: implications for genetic testing.

Severe hypertriglyceridemia due to lipoprotein lipase deficiency in an infant: pharmacological and nutritional approach.

Repaired tetralogy of Fallot: characterization of myocardial fibrosis by magnetic resonance imaging.

MDA5-associated juvenile dermatomyositis and interstitial lung disease from rapidly progressive to silent: a report of three cases in South African children and a review of the literature.

Fetal ascites caused by ovarian incarceration within an inguinal hernia and development of maternal mirror syndrome.

Metabolic Imbalance Triggers Adaptive Remodeling to Accelerate Diploidization in Murine Haploid Embryonic Stem Cells.

Outcomes of 544 Patients with t(6;9)/DEK::NUP214 acute myeloid leukemia undergoing allogeneic stem cell transplantation: an EBMT study on behalf of the acute leukemia working party (ALWP) and the pediatric diseases working party (PDWP).

Unusual Vascular Anomalies in Pediatric Hand and Plastic Surgery: A Case Series.

Rare missense variants in MYO7A and OTOP2 genes in a South Korean Meniere's disease cohort.

Hsa_circ_0002111 implicates KTC-1 cell motility and modulates migration and invasion via miR-432-5p/CDKN2B axis.

DeepFAN, a transformer-based model for human-artificial intelligence collaborative assessment of incidental pulmonary nodules in CT scans: a multireader, multicase trial.

A recent study critically appraises the efficacy and safety of repurposing anti-inflammatory targeted drugs for Darier disease. This research could inform future treatment strategies for this rare skin condition.

A recent study explores haemoptysis caused by right intercostal artery-to-pulmonary artery fistulas, which can mimic cryptogenic haemoptysis. This research contributes to understanding the underlying mechanisms of this rare condition.

A corrigendum has been issued for the study on maladaptive emergency granulopoiesis, which predicts poor outcomes in patients with decompensated cirrhosis. This research highlights the importance of understanding granulopoiesis in managing cirrhosis-related complications.

New research expands the phenotypic spectrum of ZIC1 variants, linking them to a neurodevelopmental disorder that can present with or without craniosynostosis. This study enhances understanding of the genetic underpinnings of this condition.

Not rare diseases news,
news about your rare disease.