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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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myocardial infarction subendocardial myocardial infarction+1 moreResearch

A recent study highlights the occurrence of silent myocardial infarction during pregnancy, identified through routine antenatal echocardiographic screening. This finding underscores the need for increased awareness and monitoring of cardiovascular health in pregnant women.

silent myocardial infarction in pregnancy uncovered during routine antenatal echocardiographic screening

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

Original title: “Silent Myocardial Infarction in Pregnancy Uncovered During Routine Antenatal Echocardiographic Screening.”

cystic fibrosis cystic fibrosis-gastritis-megaloblastic anemia syndromeResearch

New research highlights the use of patient-derived intestinal organoids to study cystic fibrosis, providing insights into disease mechanisms and potential therapeutic targets. This innovative approach could enhance understanding and treatment of the condition.

patient derived intestinal organoids in the global cystic fibrosis landscape

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

Original title: “Patient-Derived Intestinal Organoids in the Global Cystic Fibrosis Landscape.”

Hodgkin's lymphoma, mixed cellularity Hodgkin's lymphoma, lymphocytic-histiocytic predominance+1 moreResearch

Recent research highlights a significant breakthrough in understanding the intersection of cardio-obstetric care and Hodgkin's lymphoma. This study may pave the way for improved management strategies in pregnant patients diagnosed with this rare cancer.

cardio obstetric breakthrough beyond routine pregnancy care unmasking hodgkin s lymphoma

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

Original title: “A Cardio-Obstetric Breakthrough Beyond Routine Pregnancy Care: Unmasking Hodgkin's Lymphoma.”

Research

A recent study identified distinct genetic variants associated with syndromic anorectal malformations through whole-exome sequencing. This research enhances understanding of the genetic underpinnings of this condition, potentially guiding future therapeutic strategies.

distinct genetic variants from the whole exome sequencing of syndromic anorectal malformations a cross sectional study

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

Original title: “Distinct genetic variants from the whole-exome sequencing of syndromic anorectal malformations: A cross-sectional study.”

cystic fibrosis cystic fibrosis-gastritis-megaloblastic anemia syndromeResearch

Research indicates that PKC activators enhance the function of biogenesis-deficient CFTR channels, potentially offering new therapeutic avenues for cystic fibrosis. This study contributes to the understanding of CFTR channel functionality and its implications for treatment.

pkc activators improve the function of biogenesis deficient cftr channels

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

Original title: “PKC activators improve the function of biogenesis-deficient CFTR channels.”

pure red-cell aplasia adult pure red cell aplasiaResearch

A recent study published in PubMed explores the use of Roxadustat for treating pure red cell aplasia associated with anti-EPO antibodies. This research could provide insights into alternative treatment options for patients suffering from this rare condition.

roxadustat in the treatment of pure red cell aplasia associated with anti epo antibodies

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

Original title: “Roxadustat in the Treatment of Pure Red Cell Aplasia Associated With Anti-EPO Antibodies.”

G6PD deficiencyResearch

A recent study highlights atypical immune dysfunction in patients with G6PD deficiency, focusing on a case of mosaic neutrophil oxidative burst. This research could provide insights into the immune challenges faced by individuals with this genetic condition.

atypical immune dysfunction in g6pd deficiency a case of mosaic neutrophil oxidative burst

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

Original title: “Atypical immune dysfunction in G6PD deficiency: a case of mosaic neutrophil oxidative burst.”

Research

Presentations at the 2026 American Academy of Dermatology meeting highlight advancements in next-generation skin therapies from Sanofi, Incyte, Roivant, and Alumis. These developments showcase promising therapeutic potentials for various skin diseases.

Presentations at the 2026 meeting of the American Academy of Dermatology not only demonstrate the therapeutic potential of next-generation skin drugs but also shed light on how they might fare on the market.

BioSpace·7 months ago·Read at source →

Original title: “AAD 2026: Sanofi, Incyte, Roivant and Alumis Make Headway Into Skin Diseases”

renal carcinoma nonpapillary renal cell carcinomaResearch

A new framework for treating TFE3-rearranged renal carcinoma has been proposed, emphasizing the transition from understanding fusion partners to clinical application. This research highlights the potential for targeted therapies in this specific cancer subtype.

from fusion partner to clinical practice a treatment oriented framework for transcription factor e3 tfe3 rearranged renal carcinoma

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

Original title: “From fusion partner to clinical practice: A treatment-oriented framework for transcription factor E3 (TFE3)-rearranged renal carcinoma.”

Klebsiella pneumoniaResearch

A new study highlights the emergence of carbapenem-resistant hypervirulent ST111 K63 Klebsiella pneumoniae in China, raising concerns about antibiotic resistance and public health. This discovery underscores the need for enhanced surveillance and research into treatment options.

emergence of carbapenem resistant hypervirulent st111 k63 klebsiella pneumoniae in china

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

Original title: “Emergence of Carbapenem-Resistant Hypervirulent ST111 K63 Klebsiella pneumoniae in China.”

Research

Recent research highlights how Epstein-Barr virus influences spatial organization and immune modulation within the tumor microenvironment of classic Hodgkin lymphoma. This discovery could inform future therapeutic strategies targeting the virus's role in tumor progression.

epstein barr virus orchestrates spatial reorganization and immunomodulation in the classic hodgkin lymphoma tumor microenvironment

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

Original title: “Epstein-Barr virus orchestrates spatial reorganization and immunomodulation in the classic Hodgkin lymphoma tumor microenvironment.”

Research

The FDA's new plausible mechanism framework could significantly impact the development of personalized in vivo prime editing platforms. This framework aims to streamline the regulatory process for gene editing technologies, potentially accelerating their application in rare diseases.

implications of the fda s new plausible mechanism framework for the development of a personalized in vivo prime editing platform

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

Original title: “Implications of the FDA's new plausible mechanism framework for the development of a personalized in vivo prime editing platform.”

multiple endocrine neoplasia type 1 Cushing syndrome+1 moreResearch

Recent research highlights the use of osilodrostat for managing symptoms in patients with multiple endocrine neoplasia type 1 presenting with Cushing syndrome. This study contributes to the understanding of treatment options for this rare disease.

symptom management with osilodrostat in multiple endocrine neoplasia type 1 with a cushing syndrome presentation

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

Original title: “Symptom management with osilodrostat in multiple endocrine neoplasia type 1 with a Cushing syndrome presentation.”

scrub typhusResearch

A systematic review highlights the occurrence of movement disorders in scrub typhus, providing insights into neurological complications associated with this infectious disease. The findings may inform future research and clinical management strategies.

movement disorders in scrub typhus a systematic review

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

Original title: “Movement Disorders in Scrub Typhus: A Systematic Review.”

Research

A new study discusses cerebrospinal fluid heparan sulfate as a potential biomarker for neuronopathic mucopolysaccharidoses, highlighting both its rationale and the regulatory challenges involved. This research could pave the way for improved diagnostics in these rare diseases.

cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses rationale and regulatory challenges

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

Original title: “Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.”

pneumonia anaerobic pneumoniaResearch

A case report highlights pneumonia caused by Rickettsia felis, diagnosed through targeted next-generation sequencing of bronchoalveolar lavage fluid. This study contributes to the understanding of rare infectious diseases and their clinical identification.

case of rickettsia felis caused pneumonia and diagnosed by clinical analysis and targeted next generation sequencing tngs using bronchoalveolar lavage fluid balf a case report and literature review

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

Original title: “A case of Rickettsia felis caused pneumonia and diagnosed by clinical analysis and Targeted Next-Generation Sequencing (tNGS) using Bronchoalveolar Lavage Fluid (BALF): A case report and literature review.”

Research

A narrative review discusses the pathophysiology and therapeutic approaches to stent thrombosis, providing insights into its mechanisms and management strategies. This comprehensive overview may inform future research and clinical practices.

stent thrombosis a narrative review from pathophysiology to therapy

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

Original title: “Stent Thrombosis: A Narrative Review From Pathophysiology to Therapy.”

Research

Eli Lilly and Baseline Therapeutics are exploring the potential of GLP-1 receptor agonists in treating substance use disorders, driven by growing scientific evidence and industry interest. This research could open new therapeutic avenues for addiction treatment.

Accumulating scientific evidence and industry interest from Eli Lilly, Altimmune and startup Baseline Therapeutics is driving further research on the therapeutic potential of GLP-1 receptor agonists in treating substance use disorders.

BioSpace·7 months ago·Read at source →

Original title: “Lilly, Baseline Investigate GLP-1s’ Potential in Substance Use as Interest Mounts”

Research

Research identifies UBA7 gene variants that disrupt ISGylation in individuals with neurodevelopmental disorder phenotypes. This discovery could lead to new insights into the underlying mechanisms of these disorders.

isgylation is disrupted by uba7 gene variants identified in individuals with neurodevelopmental disorder phenotypes

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

Original title: “ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes.”

Research

A new optimized translating ribosome affinity purification protocol has been developed for low-abundance Drosophila tissues. This advancement may enhance research capabilities in studying gene expression in rare disease models.

optimized translating ribosome affinity purification protocol for low abundance drosophila tissues

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

Original title: “An optimized translating ribosome affinity purification protocol for low-abundance Drosophila tissues.”

Previous383 / 488Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A recent study highlights the occurrence of silent myocardial infarction during pregnancy, identified through routine antenatal echocardiographic screening. This finding underscores the need for increased awareness and monitoring of cardiovascular health in pregnant women.

New research highlights the use of patient-derived intestinal organoids to study cystic fibrosis, providing insights into disease mechanisms and potential therapeutic targets. This innovative approach could enhance understanding and treatment of the condition.

Recent research highlights a significant breakthrough in understanding the intersection of cardio-obstetric care and Hodgkin's lymphoma. This study may pave the way for improved management strategies in pregnant patients diagnosed with this rare cancer.

A recent study identified distinct genetic variants associated with syndromic anorectal malformations through whole-exome sequencing. This research enhances understanding of the genetic underpinnings of this condition, potentially guiding future therapeutic strategies.

Research indicates that PKC activators enhance the function of biogenesis-deficient CFTR channels, potentially offering new therapeutic avenues for cystic fibrosis. This study contributes to the understanding of CFTR channel functionality and its implications for treatment.

A recent study published in PubMed explores the use of Roxadustat for treating pure red cell aplasia associated with anti-EPO antibodies. This research could provide insights into alternative treatment options for patients suffering from this rare condition.

A recent study highlights atypical immune dysfunction in patients with G6PD deficiency, focusing on a case of mosaic neutrophil oxidative burst. This research could provide insights into the immune challenges faced by individuals with this genetic condition.

Presentations at the 2026 American Academy of Dermatology meeting highlight advancements in next-generation skin therapies from Sanofi, Incyte, Roivant, and Alumis. These developments showcase promising therapeutic potentials for various skin diseases.

A new framework for treating TFE3-rearranged renal carcinoma has been proposed, emphasizing the transition from understanding fusion partners to clinical application. This research highlights the potential for targeted therapies in this specific cancer subtype.

A new study highlights the emergence of carbapenem-resistant hypervirulent ST111 K63 Klebsiella pneumoniae in China, raising concerns about antibiotic resistance and public health. This discovery underscores the need for enhanced surveillance and research into treatment options.

Recent research highlights how Epstein-Barr virus influences spatial organization and immune modulation within the tumor microenvironment of classic Hodgkin lymphoma. This discovery could inform future therapeutic strategies targeting the virus's role in tumor progression.

The FDA's new plausible mechanism framework could significantly impact the development of personalized in vivo prime editing platforms. This framework aims to streamline the regulatory process for gene editing technologies, potentially accelerating their application in rare diseases.

Recent research highlights the use of osilodrostat for managing symptoms in patients with multiple endocrine neoplasia type 1 presenting with Cushing syndrome. This study contributes to the understanding of treatment options for this rare disease.

A systematic review highlights the occurrence of movement disorders in scrub typhus, providing insights into neurological complications associated with this infectious disease. The findings may inform future research and clinical management strategies.

A new study discusses cerebrospinal fluid heparan sulfate as a potential biomarker for neuronopathic mucopolysaccharidoses, highlighting both its rationale and the regulatory challenges involved. This research could pave the way for improved diagnostics in these rare diseases.

A case report highlights pneumonia caused by Rickettsia felis, diagnosed through targeted next-generation sequencing of bronchoalveolar lavage fluid. This study contributes to the understanding of rare infectious diseases and their clinical identification.

A narrative review discusses the pathophysiology and therapeutic approaches to stent thrombosis, providing insights into its mechanisms and management strategies. This comprehensive overview may inform future research and clinical practices.

Eli Lilly and Baseline Therapeutics are exploring the potential of GLP-1 receptor agonists in treating substance use disorders, driven by growing scientific evidence and industry interest. This research could open new therapeutic avenues for addiction treatment.

Research identifies UBA7 gene variants that disrupt ISGylation in individuals with neurodevelopmental disorder phenotypes. This discovery could lead to new insights into the underlying mechanisms of these disorders.

A new optimized translating ribosome affinity purification protocol has been developed for low-abundance Drosophila tissues. This advancement may enhance research capabilities in studying gene expression in rare disease models.

Not rare diseases news,
news about your rare disease.