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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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Research

A study explores the combined use of omalizumab and desensitization to manage IgE-mediated hypersensitivity in patients receiving enzyme replacement therapy for late-onset Pompe disease. This approach may enhance treatment outcomes for affected individuals.

combined omalizumab and desensitization to control ige mediated hypersensitivity in enzyme replacement therapy for late onset pompe disease

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Combined omalizumab and desensitization to control IgE-mediated hypersensitivity in enzyme replacement therapy for late-onset Pompe disease.”

Research

Recent research highlights splenic angiosarcoma as a rare cause of acute abdomen, emphasizing the need for awareness among clinicians. This study contributes to the understanding of this uncommon condition.

splenic angiosarcoma a rare cause of the acute abdomen

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Splenic angiosarcoma: a rare cause of the acute abdomen.”

lymphedema lymphedema-distichiasis syndromeResearch

A study published in PubMed explores the use of magnetic resonance lymphangiography in diagnosing severe primary lymphedema of the right hand. This research may enhance imaging techniques for better management of lymphedema.

magnetic resonance lymphangiography in severe primary lymphedema of the right hand

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Magnetic resonance lymphangiography in severe primary lymphedema of the right hand.”

mesothelioma benign peritoneal mesotheliomaResearch

A qualitative case study explores the continuity of care in general practice for patients with mesothelioma, an incurable illness. The findings aim to enhance understanding of patient experiences and improve healthcare delivery for this population.

rethinking continuity in general practice for people with incurable illness a qualitative case study of mesothelioma

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Rethinking continuity in general practice for people with incurable illness: a qualitative case study of mesothelioma.”

thyroid cancer thyroid cancer, nonmedullary, 3+1 moreResearch

A study from Lille explores the management of hemodialyzed patients receiving radioactive iodine treatment for thyroid cancer. The findings aim to enhance treatment protocols for this specific patient population.

management of hemodialyzed patients treated with radioactive iodine for thyroid cancer how could we improve it tracks from the lille experience

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Management of Hemodialyzed Patients Treated with Radioactive Iodine for Thyroid Cancer: How Could We Improve It? Tracks from the Lille Experience.”

familial hypercholesterolemia homozygous familial hypercholesterolemiaResearch

A recent study focuses on cascade screening and genetic variant pathogenicity assessment for familial hypercholesterolemia in an elderly township population. This research highlights the importance of early detection and genetic evaluation in managing this condition.

cascade screening and genetic variant pathogenicity assessment for familial hypercholesterolemia in a township based elderly population

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Cascade screening and genetic variant pathogenicity assessment for familial hypercholesterolemia in a township‑based elderly population.”

Myhre syndrome ruvalcaba churesigaew myhre syndromeResearch

A new case report details biliary cirrhosis in a patient with Myhre syndrome, marking the first instance of liver transplantation for this condition. The study reviews previously reported hepatic findings, contributing to the understanding of liver complications associated with Myhre syndrome.

biliary cirrhosis in myhre syndrome the first case report of liver transplantation and a review of reported hepatic findings

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic Findings.”

allergic bronchopulmonary aspergillosis pneumothorax+1 moreResearch

A case report details pulmonary aspergillosis complicated by recurrent pneumothorax in a patient with HIV. This study highlights the complexities of managing co-infections in immunocompromised individuals.

pulmonary aspergillosis complicated by recurrent pneumothorax in a person living with hiv a case report

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Pulmonary aspergillosis complicated by recurrent pneumothorax in a person living with HIV: A case report.”

Research

A new publication compares orphan drug regulations across the FDA, EMA, and Japan's PMDA, highlighting differences in approval processes and incentives. This analysis provides insights into how varying regulatory frameworks impact drug development for rare diseases.

orphan drug regulation a global comparison of the united states food and drug administration european medicines agency and japanese pharmaceuticals and medical devices agency approaches

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Orphan drug regulation: a global comparison of the United States Food and Drug Administration, European Medicines Agency, and Japanese pharmaceuticals and medical devices agency approaches.”

hepatocellular carcinoma pediatric hepatocellular carcinoma+1 moreResearch

A systematic review and meta-analysis updates the understanding of hepatocellular carcinoma attributable to hepatitis B, hepatitis C, and other risk factors globally and regionally. This research provides critical insights into the epidemiology of liver cancer, which is essential for targeted interventions.

hepatocellular carcinoma attributable to hepatitis b hepatitis c and other risk factors at global regional and national levels an updated systematic review and meta analysis

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Hepatocellular carcinoma attributable to hepatitis B, hepatitis C and other risk factors at global, regional and national levels: an updated systematic review and meta-analysis.”

mesothelioma benign peritoneal mesotheliomaResearch

A recent publication discusses the need for improved continuity in general practice for patients with mesothelioma. The recommendations aim to enhance clinical practice, research, and policy to better support this patient population.

rethinking continuity in general practice for people with mesothelioma recommendations for clinical practice research and policy

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Rethinking continuity in general practice for people with mesothelioma: recommendations for clinical practice, research, and policy.”

Research

A new publication explores the molecular mechanisms and delivery platforms of mRNA therapeutics, emphasizing the need for equitable global access. This research provides insights into regulatory frameworks that could impact the development of mRNA-based treatments for rare diseases.

mrna therapeutics molecular mechanisms delivery platforms regulatory frameworks and equitable global access

PubMed Rare Disease·6 months ago·Read at source →

Original title: “mRNA therapeutics: Molecular mechanisms, delivery platforms, regulatory frameworks, and equitable global access.”

endometrioid adenocarcinoma uterine ligament endometrioid adenocarcinoma+1 moreResearch

A case report details the occurrence of primary endometrioid adenocarcinoma of the vagina following total hysterectomy for adenomyosis. This finding contributes to the understanding of rare cancer presentations post-surgery.

primary endometrioid adenocarcinoma of the vagina after total hysterectomy for adenomyosis a case report

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Primary endometrioid adenocarcinoma of the vagina after total hysterectomy for adenomyosis: A case report.”

Research

A case report highlights the use of preoperative ultrasound for diagnosing appendiceal diverticulitis in settings where CT scans are limited. This approach may enhance diagnostic accuracy and patient management in rare cases of appendiceal conditions.

preoperative ultrasound diagnosis of appendiceal diverticulitis in a ct limited setting a case report

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Preoperative ultrasound diagnosis of appendiceal diverticulitis in a CT limited setting: A case report.”

porphyria porphyria cutanea tardaResearch

A recent study identifies somatic mosaicism in the δ-aminolevulinate dehydratase gene as a cause of late-onset porphyria with erythroid-driven pathogenesis. This discovery enhances understanding of the genetic factors contributing to this rare disease.

somatic mosaicism in the aminolevulinate dehydratase gene causing late onset porphyria with erythroid driven pathogenesis

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis.”

eosinophilic gastroenteritisResearch

A recent study explores epithelial permeability as a dynamic marker in eosinophilic gastroenteritis using probe-based confocal laser endomicroscopy (pCLE). This research may enhance understanding of gut barrier function in this rare disease.

probing the gut barrier epithelial permeability as a dynamic marker in eosinophilic gastroenteritis via pcle

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Probing the gut barrier: epithelial permeability as a dynamic marker in eosinophilic gastroenteritis via pCLE.”

autoimmune hepatitis ulcerative colitisResearch

A case report highlights the occurrence of autoimmune hepatitis in a patient with ulcerative colitis following COVID-19 vaccination. This finding adds to the understanding of potential vaccine-related adverse effects in patients with autoimmune conditions.

autoimmune hepatitis following covid 19 vaccination in a patient with ulcerative colitis a case report

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Autoimmune Hepatitis Following COVID-19 Vaccination in a Patient With Ulcerative Colitis: A Case Report.”

persistent tachypnoe of infancyResearch

Recent research provides deeper genetic insights into persistent tachypnoea of infancy (PTI/NEHI), enhancing understanding of its underlying mechanisms. This study may pave the way for future therapeutic strategies targeting this rare respiratory condition.

further genetic unravelling of persistent tachypnoea of infancy pti nehi

PubMed Rare Disease·6 months ago·Read at source →

Original title: “Further genetic unravelling of persistent tachypnoea of infancy (PTI/NEHI).”

Research

A recent webinar discussed the integration of AI and large-scale experimental data to enhance understanding of target biology and compound mechanisms of action. This approach aims to resolve complex biological networks that contribute to disease, addressing a critical bottleneck in drug development.

Disease is driven by complex biological networks that remain only partially understood until experimentally resolved as a whole. Targets and compounds advance without clear biological understanding, leading to failure. AI and large-scale experimental data have scaled hypotheses and insights. The bottleneck now shifts to biological resolution.

BioSpace·6 months ago·Read at source →

Original title: “Webinar: Resolving Target Biology and Compound MOA at Scale: Enabling AI to Chat with Cells on the BioGPU Runtime”

Research

Dyno Therapeutics has launched two new AAV capsids and an AI platform aimed at enhancing therapeutic development for rare diseases. This initiative, presented at the ASGCT 2026, aims to improve understanding of diseases and treatment options within rare disease communities.

Dyno Therapeutics launches two new AAV capsids and AI platform for rare disease therapeutic development at ASGCT 2026 Dyno Therapeutics launches two new AAV capsids and AI platform for rare disease therapeutic development at ASGCT 2026 ... More News From Dyno Therapeutics, Inc. ... WATERTOWN, Mass.--(BUSINESS WIRE)--Dyno Therapeutics announces expanded Frontiers Network and second annual Genetic Agency Technology Conference (GATC)... WATERTOWN, Mass.--(BUSINESS WIRE)--Dyno Therapeutics to present new capsids and AI advancements in gene delivery at the 29th American Society of Gene & Cell Therapy Annual Meeting... Dyno Phi is an open agentic platform for therapeutic development available at design.dynotx.com, with API access now expanding to rare disease communities to improve how patients, foundations and companies understand disease, identify treatment options and design new genetic medicines. Phi now enables therapeutic developers to run frontier open-weight protein structure models, applying filters and experimentally calibrated reasoning to support genetic medicine development · Dyno is supporting applications of Phi for patients and rare disease researchers as an AI platform for treatment exploration and therapeutic ideation WATERTOWN, Mass.--(BUSINESS WIRE)--Dyno Therapeutics, Inc., a genetic technologies company applying artificial intelligence (AI) to solve the grand challenge of in vivo gene delivery, today announced that Astellas Pharma Inc. (TSE: 4503) has exercised its option to license a novel adeno-associated virus (AAV) capsid engineered for therapeutic delivery to skeletal muscle. This is the first capsid licensed from the companies’ research collaboration announced in December 2021, marking Dyno's first... ... Dyno Therapeutics launches two new AAV capsids and AI platform for rare disease therapeutic development at ASGCT 2026

Gene & Cell Therapy·6 months ago·Read at source →

Original title: “Dyno Therapeutics Launches Two New AAV Capsids and AI Platform for Rare Disease Therapeutic Development at the 2026 American Society of Gene & Cell Therapy (ASGCT) Annual Meeting”

Previous306 / 487Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A study explores the combined use of omalizumab and desensitization to manage IgE-mediated hypersensitivity in patients receiving enzyme replacement therapy for late-onset Pompe disease. This approach may enhance treatment outcomes for affected individuals.

Recent research highlights splenic angiosarcoma as a rare cause of acute abdomen, emphasizing the need for awareness among clinicians. This study contributes to the understanding of this uncommon condition.

A study published in PubMed explores the use of magnetic resonance lymphangiography in diagnosing severe primary lymphedema of the right hand. This research may enhance imaging techniques for better management of lymphedema.

A qualitative case study explores the continuity of care in general practice for patients with mesothelioma, an incurable illness. The findings aim to enhance understanding of patient experiences and improve healthcare delivery for this population.

A study from Lille explores the management of hemodialyzed patients receiving radioactive iodine treatment for thyroid cancer. The findings aim to enhance treatment protocols for this specific patient population.

A recent study focuses on cascade screening and genetic variant pathogenicity assessment for familial hypercholesterolemia in an elderly township population. This research highlights the importance of early detection and genetic evaluation in managing this condition.

A new case report details biliary cirrhosis in a patient with Myhre syndrome, marking the first instance of liver transplantation for this condition. The study reviews previously reported hepatic findings, contributing to the understanding of liver complications associated with Myhre syndrome.

A case report details pulmonary aspergillosis complicated by recurrent pneumothorax in a patient with HIV. This study highlights the complexities of managing co-infections in immunocompromised individuals.

A new publication compares orphan drug regulations across the FDA, EMA, and Japan's PMDA, highlighting differences in approval processes and incentives. This analysis provides insights into how varying regulatory frameworks impact drug development for rare diseases.

A recent publication discusses the need for improved continuity in general practice for patients with mesothelioma. The recommendations aim to enhance clinical practice, research, and policy to better support this patient population.

A new publication explores the molecular mechanisms and delivery platforms of mRNA therapeutics, emphasizing the need for equitable global access. This research provides insights into regulatory frameworks that could impact the development of mRNA-based treatments for rare diseases.

A case report details the occurrence of primary endometrioid adenocarcinoma of the vagina following total hysterectomy for adenomyosis. This finding contributes to the understanding of rare cancer presentations post-surgery.

A case report highlights the use of preoperative ultrasound for diagnosing appendiceal diverticulitis in settings where CT scans are limited. This approach may enhance diagnostic accuracy and patient management in rare cases of appendiceal conditions.

A recent study identifies somatic mosaicism in the δ-aminolevulinate dehydratase gene as a cause of late-onset porphyria with erythroid-driven pathogenesis. This discovery enhances understanding of the genetic factors contributing to this rare disease.

A recent study explores epithelial permeability as a dynamic marker in eosinophilic gastroenteritis using probe-based confocal laser endomicroscopy (pCLE). This research may enhance understanding of gut barrier function in this rare disease.

A case report highlights the occurrence of autoimmune hepatitis in a patient with ulcerative colitis following COVID-19 vaccination. This finding adds to the understanding of potential vaccine-related adverse effects in patients with autoimmune conditions.

Recent research provides deeper genetic insights into persistent tachypnoea of infancy (PTI/NEHI), enhancing understanding of its underlying mechanisms. This study may pave the way for future therapeutic strategies targeting this rare respiratory condition.

Dyno Therapeutics has launched two new AAV capsids and an AI platform aimed at enhancing therapeutic development for rare diseases. This initiative, presented at the ASGCT 2026, aims to improve understanding of diseases and treatment options within rare disease communities.

Not rare diseases news,
news about your rare disease.