Patients who live with rare conditions have specialty care teams. You have a primary doctor, and you have other doctors who specialize in the care you need based on your condition. I have Pompe ...

Intercept Pharmaceuticals, the developer of the PBC drug, suggested that the company's view on the drug's benefit and risk profile differed from that of the US Food and Drug Administration.

CLL-related immune dysfunction, along with therapy-associated immunosuppression, contributes to impaired tumor surveillance. Patients with chronic lymphocytic leukemia (CLL) are at increased risk for ...

Several guidelines have been developed for the diagnosis and management of Fabry disease. The focus of treatment is preserving organ function, maximizing quality of life, and normalizing life ...

After 2.5 years of deoxynucleoside treatment, improvements in motor function were reported. Researchers from the United States found steady improvements and slowed rate of decline after the start of ...

The Muldoon family from Philadelphia, Pennsylvania, is shown after baby KJ’s infusion of a personalized gene-editing therapy (Photo courtesy of Children’s Hospital of Philadelphia) KJ Muldoon has been ...

Jerry Lewis, one of the most famous comedians of the 20th century, was a tireless advocate for people with muscular dystrophy. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews ...

I was fortunate to have participated in the third annual 2025 International PBC Summit in April as both a patient representative and advocate. Hosted by the PBC Foundation in Edinburgh, Scotland, this ...

Approximately 42% of patients showed evidence of SMN1 to SMN2 conversion, confirmed by the presence of SMN1-specific variants downstream of SMN2. To shed more light on the genetic determinants of SMA ...

The patient recovered from surgery with no respiratory complications or any exacerbation in the symptoms of CIDP. Researchers from Iran presented the case of a patient with chronic inflammatory ...

The combination of seralutinib and a sotatercept analog demonstrated synergistic improvements in pulmonary hemodynamics and right ventricular hypertrophy in a preclinical PAH model. In a preclinical ...

Statistical analysis revealed a strong relationship between WIS and PBC-40 and a moderate to strong relationship with the Beck Depression Inventory-II score. The primary biliary cholangitis (PBC)-40 ...