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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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Peutz-Jeghers syndromeResearch

NORD Awards Seed Grants to Advance Breakthroughs in Rare Disease Research - BioSpace

Community & Advocacy·about 1 month ago·Read at source →

neuromuscular diseaseResearch

Recent research highlights advancements in RNA-targeting therapeutics for rare neuromuscular diseases, addressing both progress and challenges in developing personalized treatments. This work underscores the potential for tailored therapies to improve patient outcomes in this underserved area.

rna targeting therapeutics for rare neuromuscular diseases progress challenges and the path toward personalized treatment

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “RNA-targeting therapeutics for rare neuromuscular diseases: progress, challenges, and the path toward personalized treatment.”

Research

Functional analysis of adrenocorticotropic-hormone-producing pituitary cells derived from human pluripotent stem cells in murine and primate models of hypopituitarism.

PubMed Rare Disease·about 1 month ago·Read at source →

Research

Generation of human induced pluripotent stem cell line (CMCi015-A) from a patient with nephronophthisis harboring compound heterozygous loss-of-function variants in the NPHP4 gene.

PubMed Rare Disease·about 1 month ago·Read at source →

thrombotic microangiopathyResearch

A new study presents rapid targeted long-read sequencing as a promising approach for the acute management of thrombotic microangiopathy. This technique could enhance diagnostic accuracy and treatment strategies for affected patients.

rapid targeted long read sequencing for acute management of thrombotic microangiopathy

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Rapid Targeted Long-Read Sequencing for Acute Management of Thrombotic Microangiopathy.”

Research

A systematic review highlights genotype-phenotype relationships in patients with biallelic FDXR pathogenic variants, providing new case insights. This research contributes to understanding the clinical implications of FDXR mutations.

genotype phenotype relationships in patients carrying biallelic fdxr pathogenic variants new cases and systematic review

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.”

Research

A recent study published in PubMed reveals how migrations of Trans-Eurasian steppe herders and barley farmers influenced paternal genomic dynamics in Northwest China, contributing to the evolution of the Hui population. This research provides insights into the genetic diversity and historical migrations in the region.

trans eurasian steppe herder and barley farmer migrations shaped paternal genomic dynamics in northwest china and hui evolution

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Trans-Eurasian steppe herder and barley farmer migrations shaped paternal genomic dynamics in Northwest China and Hui evolution.”

congestive splenomegaly chronic congestive splenomegaly+1 moreResearch

A recent case study highlights the relationship between splenomegaly and thrombocytopenia, emphasizing the need for awareness in rare disease diagnosis. This research contributes to the understanding of these conditions and their implications for patient care.

splenomegaly with thrombocytopenia a case of the rare and obvious

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Splenomegaly With Thrombocytopenia: A Case of the Rare and Obvious.”

thyrotoxicosis neonatal thyrotoxicosisResearch

A case report highlights the association between thyrotoxicosis and cholestatic jaundice in a patient with incidental gallstone disease. This literature review may provide insights into the complex interplay between thyroid dysfunction and liver health.

thyrotoxicosis associated cholestatic jaundice in a patient with incidental gallstone disease a case report and literature review

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Thyrotoxicosis-Associated Cholestatic Jaundice in a Patient With Incidental Gallstone Disease: A Case Report and Literature Review.”

tuberculosis hepatic tuberculosis+1 moreResearch

A case report details isolated prostatic tuberculosis occurring alongside benign prostatic hyperplasia. This finding may provide insights into the complexities of diagnosing and treating coexisting conditions in patients.

isolated prostatic tuberculosis coexisting with benign prostatic hyperplasia a case report

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Isolated Prostatic Tuberculosis Coexisting with Benign Prostatic Hyperplasia: A Case Report.”

Research

A new cohort study explores the clinical spectrum and genetic landscape of MTHFR deficiency, identifying novel variants that may impact diagnosis and treatment. This research enhances understanding of the genetic factors associated with this rare condition.

clinical spectrum and genetic landscape of mthfr deficiency a cohort study including novel variants

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants.”

osteomyelitis orbital osteomyelitisResearch

A pilot study presents modality-specific quantitative radiologic characterization of diffuse sclerosing osteomyelitis of the mandible. This research may enhance diagnostic accuracy and treatment strategies for this rare condition.

modality specific quantitative radiologic characterization of diffuse sclerosing osteomyelitis of the mandible a pilot study

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Modality-specific quantitative radiologic characterization of diffuse sclerosing osteomyelitis of the mandible: a pilot study.”

mitochondrial short-chain Enoyl-Coa hydratase 1 deficiencyResearch

A systematic review highlights the clinical spectrum and genotype-phenotype correlations of short-chain enoyl-CoA hydratase deficiency. The study identifies key survival predictors, enhancing understanding of this rare metabolic disorder.

short chain enoyl coa hydratase deficiency a systematic review of clinical spectrum genotype phenotype correlations and survival predictors

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Short-chain enoyl-CoA hydratase deficiency: a systematic review of clinical spectrum, genotype-phenotype correlations and survival predictors.”

generalized pustular psoriasis psoriasis 14, pustularResearch

A recent study in Italy evaluates the cost of illness and health-related quality of life for patients with generalized pustular psoriasis. The findings highlight the significant economic burden and impact on quality of life for affected individuals.

generalized pustular psoriasis a cost of illness and health related quality of life study in italy

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Generalized Pustular Psoriasis: A Cost-of-Illness and Health-Related Quality of Life Study in Italy.”

sitosterolemia sitosterolemia 2+1 moreResearch

A recent study explores the hematologic manifestations of sitosterolemia, highlighting its presentation as unexplained cytopenias. The research delves into the genetic spectrum associated with this rare lipid metabolism disorder.

sitosterolemia presenting as unexplained cytopenias hematologic manifestations and genetic spectrum

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Sitosterolemia presenting as unexplained cytopenias: hematologic manifestations and genetic spectrum.”

primary biliary cholangitis primary biliary cholangitis 4+1 moreResearch

A systematic review and meta-analysis evaluated the safety profile of elafibranor in patients with primary biliary cholangitis compared to placebo. The findings contribute to understanding the drug's safety in this rare liver disease.

safety profile of elafibranor versus placebo in primary biliary cholangitis a systematic review meta analysis and trial sequential analysis of randomized controlled trials

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Safety profile of elafibranor versus placebo in primary biliary cholangitis: A systematic review, meta-analysis, and trial sequential analysis of randomized controlled trials.”

Research

A systematic review highlights the epidemiology and transmission dynamics of Pneumocystis jirovecii pneumonia outbreaks in solid organ transplant recipients. This research provides insights into outbreak investigations, which could inform better prevention strategies.

pneumocystis jirovecii pneumonia outbreaks in solid organ transplant recipients a systematic review of epidemiology transmission dynamics and outbreak investigations

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Pneumocystis jirovecii Pneumonia Outbreaks in Solid Organ Transplant Recipients: A Systematic Review of Epidemiology, Transmission Dynamics, and Outbreak Investigations.”

Research

A narrative review discusses the mechanisms and clinical manifestations of adverse events following immunization, emphasizing the importance of surveillance and public health management. This comprehensive analysis provides insights into the safety profile of vaccines, which is crucial for public health strategies.

adverse events following immunization mechanisms clinical manifestations surveillance and public health management a narrative review

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Adverse Events Following Immunization: Mechanisms, Clinical Manifestations, Surveillance, and Public Health Management-A Narrative Review.”

Research

Recent research highlights advancements in the diagnosis and personalized treatment approaches for rare genetic diseases. These findings emphasize the importance of tailored therapies based on individual genetic profiles.

current translational perspectives for diagnosis and individualized therapy in rare genetic diseases

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.”

asthmaResearch

A recent study highlights significant unmet medical needs in patients with uncontrolled asthma in Poland, even among those receiving GINA Step 4/5 treatments. This research underscores the ongoing challenges in managing severe asthma effectively.

medical unmet needs in uncontrolled asthma despite gina step 4 5 treatment in poland

PubMed Rare Disease·about 1 month ago·Read at source →

Original title: “Medical Unmet Needs in Uncontrolled Asthma Despite GINA Step 4/5 Treatment in Poland.”

Previous58 / 482Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

NORD Awards Seed Grants to Advance Breakthroughs in Rare Disease Research - BioSpace

Recent research highlights advancements in RNA-targeting therapeutics for rare neuromuscular diseases, addressing both progress and challenges in developing personalized treatments. This work underscores the potential for tailored therapies to improve patient outcomes in this underserved area.

Functional analysis of adrenocorticotropic-hormone-producing pituitary cells derived from human pluripotent stem cells in murine and primate models of hypopituitarism.

Generation of human induced pluripotent stem cell line (CMCi015-A) from a patient with nephronophthisis harboring compound heterozygous loss-of-function variants in the NPHP4 gene.

A new study presents rapid targeted long-read sequencing as a promising approach for the acute management of thrombotic microangiopathy. This technique could enhance diagnostic accuracy and treatment strategies for affected patients.

A systematic review highlights genotype-phenotype relationships in patients with biallelic FDXR pathogenic variants, providing new case insights. This research contributes to understanding the clinical implications of FDXR mutations.

A recent case study highlights the relationship between splenomegaly and thrombocytopenia, emphasizing the need for awareness in rare disease diagnosis. This research contributes to the understanding of these conditions and their implications for patient care.

A case report highlights the association between thyrotoxicosis and cholestatic jaundice in a patient with incidental gallstone disease. This literature review may provide insights into the complex interplay between thyroid dysfunction and liver health.

A case report details isolated prostatic tuberculosis occurring alongside benign prostatic hyperplasia. This finding may provide insights into the complexities of diagnosing and treating coexisting conditions in patients.

A new cohort study explores the clinical spectrum and genetic landscape of MTHFR deficiency, identifying novel variants that may impact diagnosis and treatment. This research enhances understanding of the genetic factors associated with this rare condition.

A pilot study presents modality-specific quantitative radiologic characterization of diffuse sclerosing osteomyelitis of the mandible. This research may enhance diagnostic accuracy and treatment strategies for this rare condition.

A systematic review highlights the clinical spectrum and genotype-phenotype correlations of short-chain enoyl-CoA hydratase deficiency. The study identifies key survival predictors, enhancing understanding of this rare metabolic disorder.

A recent study in Italy evaluates the cost of illness and health-related quality of life for patients with generalized pustular psoriasis. The findings highlight the significant economic burden and impact on quality of life for affected individuals.

A recent study explores the hematologic manifestations of sitosterolemia, highlighting its presentation as unexplained cytopenias. The research delves into the genetic spectrum associated with this rare lipid metabolism disorder.

A systematic review and meta-analysis evaluated the safety profile of elafibranor in patients with primary biliary cholangitis compared to placebo. The findings contribute to understanding the drug's safety in this rare liver disease.

A systematic review highlights the epidemiology and transmission dynamics of Pneumocystis jirovecii pneumonia outbreaks in solid organ transplant recipients. This research provides insights into outbreak investigations, which could inform better prevention strategies.

Recent research highlights advancements in the diagnosis and personalized treatment approaches for rare genetic diseases. These findings emphasize the importance of tailored therapies based on individual genetic profiles.

A recent study highlights significant unmet medical needs in patients with uncontrolled asthma in Poland, even among those receiving GINA Step 4/5 treatments. This research underscores the ongoing challenges in managing severe asthma effectively.

Not rare diseases news,
news about your rare disease.