GeneticsDiagnostic and genetic testing
- 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.
- 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).
- Transforming Clinical and Genetic Data into Medical Solutions
Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses his company’s role in identiying rare diseases.
- Mucopolysaccharidosis Type II (MPS II), Hunter Syndrome
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.
- FDA Gants Orphan Drug Designation for LB-001 for the Treatment of Methylmalonic Acidemia
The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to LB-001, a recombinant adeno-associated viral vector with human methylmalonyl-COA mutase (MUT) gene for the treatment of methylmalonic acidemia (MMA).
- Mucopolysaccharidoses: Current Therapies Offer Hope, but More Effective Treatments Are Needed
Heather A. Lau, MD at NYU Langone Health, discusses some of the treatment options for individuals with mucopolysaccharidoses (MPSs). Other than supportive treatments, current therapeutic options include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation.
- Precision Medicine and the Importance of Genetic Testing in Rare Diseases
Mark Pykett, PhD, Chief Scientific Officer at PTC Therapeutics, discusses the importance of genetic testing in rare diseases.
- Arndt Rolfs of Centogene Discusses the Challenges of Diagnosing Rare Diseases
Arndt Rolfs, MD, Chief Executive Officer of Centogene, discusses the challenges of diagnosing rare diseases. Dr. Rolfs tells the story of his early days of practicing medicine. While on vacation, he came across an article in the newspaper on a disease he had never heard of before.
- Mucopolysaccharidosis type VII (MPS VII), also known as Sly Syndrome
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, discusses Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, a progressive condition that affects most tissues and organs.