The U.S. Food and Drug Administration (FDA) has approved Jynneos, a vaccine designed to prevent smallpox and monkeypox disease.
Dianne Linnehan, Director of Operations of the Phelan McDermid Syndrome Foundation discusses this rare genetic condition due to mutations in chromosome 22. In most cases, the mutations are de novo and the variety of mutations leads to a large array of symptoms and their severity.
Neena Nizar, PhD, discusses Jansen’s metaphyseal chondrodysplasia, an extremely very rare autosomal dominant disease. It is a type of skeletal dysplasia characterized by short-limbed short stature, waddling gait, bowed legs, contracture deformities of the joints, short hands, clubbed fingers, clinodactyly, prominent upper face and small mandible features.
Jeffrey W Olin, DO is a Professor of Medicine at the Icahn School of Medicine at Mount Sinai, provides an overview of fibromuscular dysplasia (FMD), a rare condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow.
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the approved and emerging therapies for mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.