The study highlights the benefits a robust genetic testing program can have, which ultimately has the potential to improve outcomes ATTRv is caused by more than 130 known mutations in the TTR gene and ...

The consequences of cystic fibrosis (CF) are extensive and affect almost every organ system. The clinical picture is broad and may present with acute or chronic manifestations. Gastrointestinal and ...

Momelotinib treatment leads to clear clinical benefits in patients with myelofibrosis (MF), according to results from a real-world study. Rare Disease Advisor, a trusted source of medical news and ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

Eventually, I will run into a doctor who has never heard of Pompe and wants all the information about it from me. Rare Disease Advisor, a trusted source of medical news and feature content for ...

Between 1970 and 1995, the incidence of new NHL cases increased. Between 2007 and 2016, new cases declined by approximately 0.9% per year, and mortality from NHL decreased by 2.2% per year. 3 ...

Several factors can contribute to the suppression of bone marrow erythropoiesis in infants with HDFN, including maternal antibodies, intrauterine transfusion, and simple transfusion. The suppression ...

In this episode of the Rare Care podcast, Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Kfir Oved, PhD, about the latest Israeli research on myasthenia gravis (MG). Dr. Oved ...

Belinda Moser of ExamOne takes a blood sample from Marie Bedirlian, whose 14-year-old son, Brayden, has Duchenne. Bedirlian is a DMD carrier. (Photo by Larry Luxner) Pradeep Mammen, MD, an expert on ...

Kine Sciences advanced KINE-101 to the phase 1b/2a study following the successful completion of a phase 1 study in the United States. The first patient in a new phase 1b/2a clinical trial to ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

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 ...