Rare and Genetic Disease Network

Featured

Common Early Features of MPS

Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the common early features of ,mucopolysaccharidoses (MPSs), a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.

Centogene’s Diagnostic Portfolio

Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses his company’s role in identiying rare diseases. In this video, Dr. Rolfs says that his company has the industry’s largest diagnostic potfolio.

Spontaneous Coronary Artery Dissection (SCAD) Overview

Malissa J. Wood, MD at Harvard Medical School provides an overview of spontaneous coronary artery dissection (SCAD), a rare condition in which blood accumulates between the layers of tissue that make up the wall of the coronary artery (the vessel that supplies blood to the heart).

Challenges of Diagnosing Porphyria

Kristen Wheeden, Director of Development for the American Porphyria Foundation, discusses some of the challenges in diagnosing this rare disease.

May is MPS Awareness Month

Mucopolysaccharidoses (MPSs) are a group of genetic lysosomal disorders in which persons have low levels of specific enzymes that leads to an abnormal accumulation of complex carbohydrates (mucopolysaccharides or glycosaminoglycans).

Diagnosing and Treating Fibromuscular Dysplasia (FMD)

Jeffrey W Olin, DO, Professor of Medicine at the Icahn School of Medicine at Mount Sinai, discusses diagnosing and treating 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.

Dup15q Research: The ARCADE Trial

Vanessa Vogel-Farley, Executive Director of the Dup15q Alliance, discusses research in this rare disease, including the ARCADE trial, a phase 2 open-label pilot study. 

Special Reports