Challenges

Typical Physical Features Across All SubTypes of Mucopolysaccharidoses (MPSs)

Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses some of the typical physician features across all subtypes 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.

Peter Saltonstall Discusses the Orphan Drug Act

Peter Saltonstall, President and Chief Executive Officer of the National Organization for Rare Disorders (NORD), discusses his organization’s position on the Orphan Drug Act.

FDA Grants Orphan Drug Status to Hunter Syndrome Candidate

The FDA has granted orphan drug status and a rare pediatric disease designation to Denali Therapeutics pipeline candidate, DNL310.

2030 Goal: Universal Health Coverage for Rare Diseases

Rare Disease International (RDI) is a global alliance of rare disease patient organizations designed to be an international voice for the rare disease community. One of its key initiatives is to include rare diseases in the Universal Health Coverage being developed by the United Nations (UN) for the year 2030.

FDA Fast Track Designation for Gene Therapy in CLN1 Disease (Infantile Batten disease)

The U.S. Food and Drug Administration (FDA) has granted Fast Track designation to a novel one-time AAV9 gene therapy for CLN1 disease.

Mucopolysaccharidosis type IV (MPS IV or Morquio Disease)

Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type IV (MPS IV) or Morquio disease.

Management and Treatment of Spontaneous Coronary Artery Dissection (SCAD)

Malissa J. Wood, MD, is co-director of the Corrigan Women’s Heart Health Program at Massachusetts General Hospital and associate professor of medicine at Harvard Medical School. In this video, Dr. Wood discusses the management and treatment of Spontaneous Coronary Artery Dissection (SCAD).

Fibromuscular Dysplasia and the “String of Beads”

Jeffrey W Olin, DO, Professor of Medicine at the Icahn School of Medicine at Mount Sinai, discusses the “string of beads” as the description typically given to the appearance of the renal artery in fibromuscular dysplasia (FMD).

Differences in FMD in Men and Women and Exploring the SCAD Connection

Ido Weinberg, MD, Medical Director, VASCORE; Assistant Professor of Medicine Harvard Medical School, Co-Medical Director, Anticoagulation Management Services, Massachusetts General Hospital, discusses Fibromuscular Dysplasia (FMD) in men and women and its relationship to Spontaneous Coronary Artery Dissection (SCAD).

Mucopolysaccharidosis type VI (MPS VI or Maroteaux-Lamy Syndrome)

Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type VI (MPS VI).