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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.

News sourcesFDA·NIH·CDC·EMA·PubMed·Federal Register·NORD·EURORDIS·Global Genes·The Mighty·BioPharma Dive·BioSpace

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Dent diseaseResearch

Clinical characteristics and genetic analyses of Korean children with Dent disease.

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

Research

Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes.

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

prostate adenocarcinomaResearch

A recent case report highlights penile metastasis from prostate adenocarcinoma, contributing to the understanding of rare metastatic patterns. This literature review may inform future research and clinical approaches to similar cases.

penile metastasis from prostate adenocarcinoma a case report and review of the literature

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

Original title: “Penile metastasis from prostate adenocarcinoma: A case report and review of the literature.”

acute intermittent porphyriaResearch

A recent study published in PubMed highlights the clinical characteristics and outcomes of acute intermittent porphyria, utilizing data from the European Porphyria Registry. This research provides valuable insights into the disease's impact on patients and may inform future treatment strategies.

clinical characteristics and outcomes of acute intermittent porphyria insights from the european porphyria registry

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

Original title: “Clinical Characteristics and Outcomes of Acute Intermittent Porphyria: Insights From the European Porphyria Registry.”

obesity disorderResearch

A preprint study indicates that patients using Eli Lilly’s tirzepatide experienced greater loss of lean mass compared to those on Novo Nordisk’s semaglutide. This research, while not yet peer-reviewed, could influence future weight-loss treatment strategies.

More patients on Eli Lilly’s tirzepatide lost over 5% of their lean mass versus those on Novo Nordisk’s semaglutide, according to a study that has yet to be peer reviewed.

BioSpace·7 months ago·Read at source →

Original title: “Novo may have muscle advantage over Lilly in weight-loss race: preprint”

Research

Replimune cries foul on regulatory flexibility. But many Americans want a stricter FDA

BioSpace·7 months ago·Read at source →

Research

Small pools, big ideas: How the rare disease community is reimagining clinical trials

Treatment & Clinical News·7 months ago·Read at source →

amyloidosisResearch

Recent cryo-electron microscopy studies reveal significant structural variability of apolipoprotein A-I amyloid fibrils, which may impact clinical presentations and mutations across different organs. This research enhances understanding of amyloid diseases and could inform future therapeutic strategies.

cryo em reveals structural variability of apolipoprotein a i amyloid fibrils across organs mutations and clinical presentations

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

Original title: “Cryo-EM reveals structural variability of apolipoprotein A-I amyloid fibrils across organs, mutations, and clinical presentations.”

medulloblastoma childhood medulloblastomaResearch

Recent research highlights the role of PTEN in inhibiting SHH medulloblastoma growth via both cell autonomous and nonautonomous mechanisms. This discovery could inform future therapeutic strategies for this aggressive brain tumor.

pten restrains shh medulloblastoma growth through cell autonomous and nonautonomous mechanisms

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

Original title: “PTEN restrains SHH medulloblastoma growth through cell autonomous and nonautonomous mechanisms.”

Research

A Novel YY1AP1 Variant in Grange Syndrome: Clinical and Molecular Findings in Eight Individuals With a Dual Molecular Diagnosis Involving CLMP in One Patient.

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

Research

Physical function, quality of life, musculoskeletal pain, and prosthesis use in adults with congenital reduction defects of the upper limb: A cross-sectional study.

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

Research

Automating evaluation of LLM-generated responses to patient questions about rare diseases.

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

inherited Creutzfeldt-Jakob disease acquired Creutzfeldt-Jakob disease+1 moreResearch

Sporadic Creutzfeldt-Jakob disease presenting with cerebral atrophy following traumatic brain injury mimicking hydrocephalus: a case report.

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

Research

Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.

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

Research

Comment: Increased exacerbations and hospitalizations among PiMZ compared to PiMM individuals?

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

Research

Austrian real-world experience with standard of care brexucabtagene autoleucel in patients with relapsed or refractory mantle-cell lymphoma.

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

Previous359 / 488Next

Daily Briefings

Kisho

Not rare diseases news,
news about your rare disease.

Earlier

Clinical characteristics and genetic analyses of Korean children with Dent disease.

Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes.

A recent case report highlights penile metastasis from prostate adenocarcinoma, contributing to the understanding of rare metastatic patterns. This literature review may inform future research and clinical approaches to similar cases.

A recent study published in PubMed highlights the clinical characteristics and outcomes of acute intermittent porphyria, utilizing data from the European Porphyria Registry. This research provides valuable insights into the disease's impact on patients and may inform future treatment strategies.

A preprint study indicates that patients using Eli Lilly’s tirzepatide experienced greater loss of lean mass compared to those on Novo Nordisk’s semaglutide. This research, while not yet peer-reviewed, could influence future weight-loss treatment strategies.

Replimune cries foul on regulatory flexibility. But many Americans want a stricter FDA

Small pools, big ideas: How the rare disease community is reimagining clinical trials

Recent research highlights the role of PTEN in inhibiting SHH medulloblastoma growth via both cell autonomous and nonautonomous mechanisms. This discovery could inform future therapeutic strategies for this aggressive brain tumor.

A Novel YY1AP1 Variant in Grange Syndrome: Clinical and Molecular Findings in Eight Individuals With a Dual Molecular Diagnosis Involving CLMP in One Patient.

Physical function, quality of life, musculoskeletal pain, and prosthesis use in adults with congenital reduction defects of the upper limb: A cross-sectional study.

Automating evaluation of LLM-generated responses to patient questions about rare diseases.

Sporadic Creutzfeldt-Jakob disease presenting with cerebral atrophy following traumatic brain injury mimicking hydrocephalus: a case report.

Structural Mechanism of Receptor-Triggered MyD88 Oligomeric Assembly in Innate Immune Signaling.

Systemic delivery of AAV-GFM1 corrects COXPD1 molecular alterations in Gfm1(R671C/-) mice.

Tools and tactics for studying alternative splicing.

Generalization of Left Ventricular Segmentation Models to LVNC Patients: A Comparative Study.

Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.

Comment: Increased exacerbations and hospitalizations among PiMZ compared to PiMM individuals?

Austrian real-world experience with standard of care brexucabtagene autoleucel in patients with relapsed or refractory mantle-cell lymphoma.

Not rare diseases news,news about your rare disease.

Earlier

Clinical characteristics and genetic analyses of Korean children with Dent disease.

Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes.

A recent case report highlights penile metastasis from prostate adenocarcinoma, contributing to the understanding of rare metastatic patterns. This literature review may inform future research and clinical approaches to similar cases.

A recent study published in PubMed highlights the clinical characteristics and outcomes of acute intermittent porphyria, utilizing data from the European Porphyria Registry. This research provides valuable insights into the disease's impact on patients and may inform future treatment strategies.

A preprint study indicates that patients using Eli Lilly’s tirzepatide experienced greater loss of lean mass compared to those on Novo Nordisk’s semaglutide. This research, while not yet peer-reviewed, could influence future weight-loss treatment strategies.

Replimune cries foul on regulatory flexibility. But many Americans want a stricter FDA

Small pools, big ideas: How the rare disease community is reimagining clinical trials

Recent research highlights the role of PTEN in inhibiting SHH medulloblastoma growth via both cell autonomous and nonautonomous mechanisms. This discovery could inform future therapeutic strategies for this aggressive brain tumor.

A Novel YY1AP1 Variant in Grange Syndrome: Clinical and Molecular Findings in Eight Individuals With a Dual Molecular Diagnosis Involving CLMP in One Patient.

Physical function, quality of life, musculoskeletal pain, and prosthesis use in adults with congenital reduction defects of the upper limb: A cross-sectional study.

Automating evaluation of LLM-generated responses to patient questions about rare diseases.

Sporadic Creutzfeldt-Jakob disease presenting with cerebral atrophy following traumatic brain injury mimicking hydrocephalus: a case report.

Structural Mechanism of Receptor-Triggered MyD88 Oligomeric Assembly in Innate Immune Signaling.

Systemic delivery of AAV-GFM1 corrects COXPD1 molecular alterations in Gfm1(R671C/-) mice.

Tools and tactics for studying alternative splicing.

Generalization of Left Ventricular Segmentation Models to LVNC Patients: A Comparative Study.

Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.

Comment: Increased exacerbations and hospitalizations among Pi*MZ compared to Pi*MM individuals?

Austrian real-world experience with standard of care brexucabtagene autoleucel in patients with relapsed or refractory mantle-cell lymphoma.

Not rare diseases news,
news about your rare disease.

Comment: Increased exacerbations and hospitalizations among PiMZ compared to PiMM individuals?