IPF, the most common form of fibrosing interstitial lung disease (ILD), is characterized by abnormal accumulation of fibrotic tissue, causing thickening and stiffening of the lung parenchyma. 2 ...

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 ...

Regarding the pediatric population, mold-active antifungal prophylaxis is recommended for pediatric patients at high risk of IFD, including a subgroup of children with ALL. Regarding the pediatric ...

In diagnosed cases of cutaneous mastocytosis, investigations to rule out systemic mastocytosis may be appropriate. A young child with a small chest lump and anemia was found to have cutaneous ...

Treatment decreased MSH3 mRNA levels in bulk striatal tissue by up to 27% in mice and 39% in nonhuman primates. Targeting mutS homolog 3 (MSH3), a key component of the DNA mismatch repair pathway, may ...

Sickle cell disease is inherited in an autosomal recessive pattern, which means that a child is born with SCD only when they inherit 2 defective copies of the sickle cell gene (1 from each parent). If ...

November is National Family Caregivers Month, and it’s vital to recognize the role of family caregivers in the rare disease community. Their role and efforts are often invisible, unpaid, and ...

In treatment-refractory EGPA, physicians should initiate additional investigations as soon as possible to identify the therapies best suited to prevent further clinical deterioration. A female child ...

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 ...

The most important of the tested treatment benefits was reducing the risk of death, while the least important was the ability to easily take a bath or shower. People living with transthyretin-mediated ...

Z-rostudirsen is designed to enable production of near full-length dystrophin in both muscle and the central nervous system, unlike similar therapies that target muscle alone. Dyne Therapeutics has ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Miller, MD, a professor of pediatric endocrinology at the University of Florida in Gainesville who specializes in ...