GeneticsDiagnostic and genetic testing
Femida Gwady-Sridhar, PhD, founder of Pulse Infoframe talks about the need for better collaboration between patient groups and researchers in regard to collecting and using data more effectively and efficiently.
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.
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.
As Dr. Brown explains in this video, gene therapy is ideal suited for many rare diseases since most rare diseases have a genetic origin. But with 6000 – 7000 known rare diseases and with gene therapy costing over $1 million a therapy, the cost of developing gene therapy for many of the 30 million Americans with a rare condition is not sustainable.
Kristen Wheeden, Director of Development for the American Porphyria Foundation, discusses current treatment options for Porphyria, including some treatments in clinical trials.