Drug Development Requires Patients’ Input To Know What is Important
Luke Rosen is the father of a daughter with KIF1A associated neurological disorder (KAND) and co-founder of the short-lived, but highly successful patient organization, KIF1A.org.
Huntington’s Disease Drug Development and Patient Groups
Scott Schobel, MD, MSc, clinical science leader for Roche’s Huntington Disease Program talks about the role that Huntington disease patient group, throughout the world, helped Roche develop their clinical program focused on Huntington disease.
Testing for Hereditary Angioedema is Easy
In this video clip, Timothy Craig, DO of the Penn State Milton S. Hershey Medical Center describes some of the symptoms that may warrant testing for HAE.
Mucopolysaccharidosis (MPS) Resource Center
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).
Arndt Rolfs, MD: Challenges of Diagnostic Testing
Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses the challenges of diagnostic testing and how Centogene is overcoming some of these challenges.
Rare Diseases Need to Be Considered Early in a Patient’s Diagnostic Journey
Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses the challenges of diagnosing rare diseases and how rare diseases need to be considered early in the diagnostic work up.
