Nano-rare diseases are defined as those affecting fewer than 30 patients worldwide.

Ahead of July 13, GIST Awareness Day, researchers voiced optimism about potential treatments for this rare disease, including its SDH-deficient subset.

The Cholangiocarcinoma Foundation names Juan Valle, MB ChB, as its first chief medical officer as incidence of the rare biliary tract cancer is on the rise.

A team of researchers from the United States presented the case of a patient with neuromyelitis optica spectrum disorder (NMOSD) with atypical

In Cureus, researchers presented the rare case of a Bahraini boy who was diagnosed with myelodysplastic neoplasia, a specific form of myelodysplastic

Newborn screening programs can help saves the lives of babies with potentially fatal genetic mutations.

Transanal minimally invasive surgery for the resection of a huge rectal gastrointestinal stromal tumor (GIST) situated at the anterior aspect is safe and

Researchers from Japan presented the case of a patient with intrahepatic cholangiocarcinoma (iCCA) involving the right hepatic hilum, accompanied by

Cucurbitacin C (CuC), a biochemical compound found in plants belonging to the pumpkin and gourd family, is able to suppress cell proliferation, migration,

Edgewise Therapeutics focuses on small-molecule therapies to preserve muscle in patients with DMD, while Locanabio is working on snRNA technology.

A new clinical trial will investigate the use of dimethyl fumarate (DMF) for the treatment of Friedreich ataxia (FA), according to a study protocol

Healing from a medullary thyroid carcinoma (MTC) diagnosis is multifaceted.

Complex remodeling of the bone marrow microenvironment occurs in primary myelofibrosis (MF), a new study published in Cell Stem Cell found. According to

The Life Raft Group, which advocates for people with gastrointestinal stromal tumor (GIST), has a new executive director: Sara Rothschild.

A third treatment for the chorea associated with Huntington disease was recently approved, but there is no disease-modifying therapy available to patients.

In a context of extremely limited options, treatment priorities for patients with PWS will depend partly on their age, said Tony Holland, MD.

Nasal administration of foralumab, a fully human anti-CD3 monoclonal antibody, showed positive clinical effects for 2 patients with nonactive secondary

Researchers presented the case study of a patient within eosinophilic granulomatosis with polyangiitis (EGPA), a form of antineutrophil cytoplasmic

Rare disease advocates are marking the 40th anniversary of the landmark Orphan Drug Act, which has led to over 1100 approvals for new therapies.

BRCA mutations more commonly associated with breast and ovarian cancer may also be a risk factor in cholangiocarcinoma, researchers say.

On average, there is a 9-year diagnostic delay for rare diseases, which is the same as in 1978, according to a study presented at the NORD Summit.

Peter Marks, MD, PhD, director of the FDA’s Center for Biologics Evaluation and Research, analyzed progress on gene therapy at a rare disease conference.

A novel gene transfer therapy could yield important benefits with a tolerable safety performance for treating patients diagnosed with Duchenne muscular

A new study of 2 case reports suggests that passive acquisition of red blood cell antibodies via breastfeeding is possible in infants with hemolytic

Several investigational therapies are being evaluated for the treatment of Prader-Willi syndrome, a rare disease marked by persistent hyperphagia.

Sumaira Ahmed, an advocate for patients with NMOSD, is featured in an episode of PBS-TV's award-winning documentary series Medical Stories.

The US Food and Drug Administration (FDA) granted approval for Xphozah® (tenapanor), marking a major step forward in the treatment of chronic kidney

The histology of metastatic lesions of hepatocellular-cholangiocarcinoma (HCC-CCA) appears variable; however, overlapping genomic alterations in HCC and

Danny’s Dose Alliance aims to "change current outdated emergency treatment protocols that affect the proper care of special needs medical patients.”

Researchers from Portugal presented the case of a child, who was 14 years of age, with generalized myasthenia gravis (gMG) that was refractory to

A team of physicians from the Medical Board of the National Psoriasis Foundation reached a consensus on 5 statements meant to guide the management of

The belief driving drug repurposing is that the current drugs that we do have may yet possess therapeutic aspects we aren’t fully aware of.

Several genes associated with the atherosclerotic process appear to be deregulated in patients with Philadelphia-negative chronic myeloproliferative

A growing body of evidence suggests that an immune system response is involved in the onset and progression of hereditary transthyretin amyloidosis

Treatment with anti-interleukin (IL)-17 may play a beneficial role in several subtypes of pustular psoriasis (PP), including generalized pustular

Ed Howard, a retired electrical engineer, was diagnosed with cholangiocarcinoma by chance, when his doctor spotted a liver lesion after a chest CT scan.

Machine learning could become a diagnostic tool for assessing altered gut microbiomes in patients with myasthenia gravis (MG), according to a recent study

The definition of multiple sclerosis (MS) itself describes one of the challenges of this chronic illness.

In a letter to the editor of The Journal of Dermatology, researchers presented the case of a patient with generalized pustular psoriasis (GPP) who had

In Cureus, researchers presented the rare case report of a patient with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) presenting

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Sara Rothschild, the new executive director of the Life Raft Group, the nation's chief nonprofit advocating on behalf of...

Including Y90-TARE as a neoadjuvant treatment modality for intrahepatic CCA may improve outcomes compared with chemotherapy alone.

Patients with AAV exhibit a greater decline in gammaglobulin levels after induction therapy when they are older or have a low baseline gammaglobulin level.

An abbreviated cardiac magnetic resonance imaging (aCMR) protocol has improved clinical relevance and quality scores compared to echocardiography in

Rare disease advocacy groups are lobbying Congress to amend regulations to let people with disabilities remain in their wheelchairs during flights.

Researchers from the Netherlands developed an AI-based tool that can identify patients with AAV within electronic health record systems.

Researchers from Alexandria University in Egypt have identified potential screening tools to detect diffuse interstitial myocardial fibrosis and

A confusing system of disease codes has led to inaccurate reporting of the number of cholangiocarcinoma cases worldwide, a renowned liver specialist said.

Microvascular invasion plays a key role in the prognosis of intrahepatic cholangiocarcinoma following curative resection, a new study published in BMC

Patients with recurrent intrahepatic cholangiocarcinoma (CCA) appear to benefit from tumor resection, according to a recently published study in

DIONYSUS is a Netherlands-based registry that has amassed the largest database ever on patients with hemolytic disease of the fetus and newborn (HDFN).