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.
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.
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.
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).
Prof. Arndt Rolfs, MD, Chief Executive Officer at Centogene discuses the challenges of diagnostic testing and how Centogene is overcoming some of these challenges.
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.