Raymond Wang, MD, Metabolic Specialist and Director of the Multidisciplinary Lysosomal Storage Disorder Program at Children's Hospital of Orange County, discusses RGX-111, an investigational gene therapy for mucopolysaccharidosis type I (MPS I).

Source: CheckRare
https://www.youtube.com/watch?v=EP_dYVS84dQ

Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type I (MPS I). This condition was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe.

Source: CheckRare
https://www.youtube.com/watch?v=_GTHPlgvrC0

Mucopolysaccharidosis I (MPS I) is a rare inherited genetic disorder caused by a deficiency of an enzyme, α-L-iduronidase, leading to a buildup of a waste product called glycosaminoglycans (GAGs).

Source: Specialty Care at Sanofi
https://www.youtube.com/watch?v=bwGHObDODsY

Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; 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.

Source: CheckRare
https://www.youtube.com/watch?v=FQ3ObLCuinw

This is a story of a four-year-old Kirby Wilson who was diagnosed with Sanfilippo syndrome type B. Shortly afterwards Kirby’s parents, Sue and Brad Wilson, formed the Children’s Medical Research Foundation, Inc. The video presents the journey of Kirby Wilson with Sanfilippo syndrome type B.

Source: Raremark Health
https://www.youtube.com/watch?v=KqtnNdyHKzk

Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children's Hospital at Montefiore talks about the need for newborn screening to help eliminate the long and often frustrating delays in a getting a proper diagnosis for rare conditions.

Source: CheckRare
https://www.youtube.com/watch?v=HXBbCBovNy0

Raj Mehra, PhD, Chief Executive Officer of Seelos Therapeutics provides an overview of Sanfilippo syndrome, also known as Mucopolysaccharidosis type III (MPS III), a progressive disorder that primarily affects the brain and spinal cord (central nervous system).

Source: CheckRare
https://www.youtube.com/watch?v=vaoeONbc6nU

The video presents perspective of patient advocates on experimental therapy.

Source: Cure Sanfilippo Foundation
https://www.youtube.com/watch?v=FDsp7mJWJgM

I-Cell Disease, Mucolipidosis II, Mucolipidosis III, Pseudo-Hurler Polydystrophy: A Clinical and Scientific History - Presented at the Greenwood Genetic Center on April 26, 2018 by Dr. Jules Leroy, discoverer of I-Cell Disease aka Leroy Disease

Source: Greenwood Genetic Center
https://www.youtube.com/watch?v=4jmm2bcB2BE

A young girl fights for her life against a rare genetic disease called MPS 6. When many medical professionals thought she would never live past the age of three, Shafon Faith Seeden proved them wrong. The belief of some doctors, nurses and geneticists made her life worth living. This is a documentary about faith, family, teachers and friends whose love fought this terrible disease and are still fighting it.

Source: Joseph May
https://www.youtube.com/watch?v=Ki4ZsbI_xKs

Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type VI (MPS VI).

Source: CheckRare
https://www.youtube.com/watch?v=xmaDCon1ixY

Meet Dane, a passionate technology expert who was diagnosed with Morquio A at an early age. His enthusiasm for computers and video games actually stemmed from having a rare disease and has since grown into one of his biggest passions. Watch to learn more about Dane's story, hobbies, and how he doesn't let Morquio A stop him from pursuing his goals!

Source: BioMarin
https://www.youtube.com/watch?v=nE7sJCUlOLo