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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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sickle cell disease sickle cell-hemoglobin d disease syndrome+1 moreResearch

Tessera Therapeutics Showcases New Preclinical Data Advancing In Vivo Program in Sickle Cell Disease and CAR-T Applications at the American Society of Gene and Cell Therapy 29th Annual Meeting

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

hereditary spastic paraplegia spastic paraplegia-glaucoma-intellectual disability syndrome+1 moreResearch

A recent study published in PubMed highlights the presence of FTLD-TDP-43 pathology in a patient with spastic paraplegia-30B linked to a homozygous KIF1A variant. This research contributes to the understanding of the genetic underpinnings of motor neuron disease.

ftld tdp 43 with motor neuron disease pathology in an autopsied patient with spastic paraplegia 30b harbouring a homozygous kif1a variant

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

Original title: “FTLD-TDP-43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia-30B Harbouring a Homozygous KIF1A Variant.”

Duchenne muscular dystrophyResearch

Regenxbio says Duchenne gene therapy succeeded in clinical trial, paving way for FDA submission

Treatment & Clinical News·6 months ago·Read at source →

Research

From MSCs to iPSCs: building the cell therapy future

BioSpace·6 months ago·Read at source →

Research

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 - BioSpace

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

Research

Progress and challenges in intrathecal gene therapy for neurological disorders.

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

Research

Perivascular adipose single-cell atlas identifies CD55(+) adipose-derived stem cells as vascular remodeling regulators in atherosclerosis.

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

epidural abscess spinal cord lymphomaResearch

A case report details a rare instance of clostridial spondylodiscitis and epidural abscess linked to spinal lymphoma in the thoracic spine. This complex case highlights the challenges in diagnosing and managing overlapping rare conditions.

rare and complex case report of superimposed clostridial spondylodiscitis and epidural abscess associated with spinal lymphoma of the thoracic spine

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

Original title: “A rare and complex case report of superimposed clostridial spondylodiscitis and epidural abscess associated with spinal lymphoma of the thoracic spine.”

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.”

primary biliary cholangitis primary biliary cholangitis 4+1 moreResearch

Recent research explores potential curative approaches for primary biliary cholangitis, a chronic liver disease. The study highlights advancements in understanding the disease mechanisms and possible therapeutic targets.

can we cure primary biliary cholangitis

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

Original title: “Can we cure primary biliary cholangitis?”

Ebstein anomaly atrioventricular block+1 moreResearch

A case report details late-onset third-degree atrioventricular block in an adult with surgically corrected Ebstein anomaly. This finding contributes to the understanding of potential long-term cardiac complications in patients with this congenital heart defect.

late onset third degree atrioventricular block in adult with surgically corrected ebstein anomaly a case report

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

Original title: “Late-Onset Third Degree Atrioventricular Block in Adult With Surgically Corrected Ebstein Anomaly: A Case Report.”

pyoderma gangrenosum pyoderma gangrenosum-acne-suppurative hidradenitis syndromeResearch

Two case reports highlight pyoderma gangrenosum presenting as chronic infective ulcers in patients of varying ages. These findings emphasize the need for awareness and accurate diagnosis of this rare condition.

pyoderma gangrenosum masquerading as chronic infective ulcers two case reports across age extremes

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

Original title: “Pyoderma Gangrenosum Masquerading as Chronic Infective Ulcers: Two Case Reports Across Age Extremes.”

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.”

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.”

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 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.”

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.”

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.”

Fabry diseaseResearch

A case report highlights the impact of migalastat therapy on corneal deposits in a female patient with Fabry disease. This study contributes to the understanding of treatment effects in rare diseases.

impact of migalastat therapy on corneal deposits in a female with fabry disease a case report

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

Original title: “Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report.”

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.”

Previous305 / 487Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

Tessera Therapeutics Showcases New Preclinical Data Advancing In Vivo Program in Sickle Cell Disease and CAR-T Applications at the American Society of Gene and Cell Therapy 29th Annual Meeting

A recent study published in PubMed highlights the presence of FTLD-TDP-43 pathology in a patient with spastic paraplegia-30B linked to a homozygous KIF1A variant. This research contributes to the understanding of the genetic underpinnings of motor neuron disease.

Regenxbio says Duchenne gene therapy succeeded in clinical trial, paving way for FDA submission

From MSCs to iPSCs: building the cell therapy future

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 - BioSpace

Progress and challenges in intrathecal gene therapy for neurological disorders.

Perivascular adipose single-cell atlas identifies CD55(+) adipose-derived stem cells as vascular remodeling regulators in atherosclerosis.

A case report details a rare instance of clostridial spondylodiscitis and epidural abscess linked to spinal lymphoma in the thoracic spine. This complex case highlights the challenges in diagnosing and managing overlapping rare conditions.

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.

Recent research explores potential curative approaches for primary biliary cholangitis, a chronic liver disease. The study highlights advancements in understanding the disease mechanisms and possible therapeutic targets.

A case report details late-onset third-degree atrioventricular block in an adult with surgically corrected Ebstein anomaly. This finding contributes to the understanding of potential long-term cardiac complications in patients with this congenital heart defect.

Two case reports highlight pyoderma gangrenosum presenting as chronic infective ulcers in patients of varying ages. These findings emphasize the need for awareness and accurate diagnosis of this rare condition.

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 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.

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.

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 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 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 impact of migalastat therapy on corneal deposits in a female patient with Fabry disease. This study contributes to the understanding of treatment effects in rare diseases.

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.

Not rare diseases news,
news about your rare disease.