Newborn screening remains an unevenly accessible resource.

Katherine Mathews, MD, leads the University of Iowa's Wellstone Muscular Dystrophy Specialized Research Center.

Jimmy Pollard is a former special education teacher who at one point found himself caring for 61 people with Huntington disease.

In the past few years alone, researchers have reported myriad cases of IgG4-RD being mistaken for some type of malignancy.

Generalized pustular psoriasis is the most serious form of psoriasis, with more than half of all patients with the condition needing hospitalization.

Tafamidis has made a tremendous difference in the lives of patients with ATTR-CM.

Because of the significant disease burden of CLL, many patients struggle with issues related to health-related quality of life.

Researchers continue to explore the potential long-term effects of fetal and neonatal alloimmune thrombocytopenia, such as any impact on baby weight.

To provide holistic care for individuals with ATTR-PN, both patient and physician perspectives must be taken into account.

Patients with achondroplasia often struggle with orthopedic complications that affect quality of life and require surgical intervention.