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.
Overview of the Mucopolysaccharidoses
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of the mucopolysaccharidoses (MPSs) a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy.
Neurofibromatosis
Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system.
Dr. David Atkins, CEO of Congenica Discusses Genome Testing
David Atkins, PhD, CEO of Congenica, a provider of the diagnostic decision support platform, Sapientia, which enable clinicians to interrogate the human genome to identify disease-causing variants.
Progressive Familial Intrahepatic Cholestasis (PFIC) Overview
Ron Cooper, President and CEO of Albireo, provides and overview of progressive familial intrahepatic cholestasis (PFIC), a rare genetic condition that affects the liver. PFIC is estimated to affect between one in every 50,000 to 100,000 children born worldwide and causes progressive, life-threatening liver disease.
