Trusted Resources: Videos & Visuals

The video explains the Mucopolysaccharidosis and its types: MPS I Hurler, Hurler-Scheie and Scheie. Video also gives an overview of the disease causes, symptoms and treatments.

Source: Design Science
https://www.youtube.com/watch?v=C5SHVIWBWgU

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

Source: AVROBIO, Inc.
https://www.avrobio.com/wp-content/uploads/hunter-syndrome-diagram-2048x1124.png

Source: CheckRare
https://checkrare.com/wp-content/uploads/2018/04/Sanfilippo-Syndrome-Mucopolysaccharidosis-III.png

Source: Lysosomal Storage Disorders Support Society (LSDSS)
https://pbs.twimg.com/media/Dy-YV36VAAA_A5z.jpg

Source: Medindia.net
https://www.medindia.net/patients/patientinfo/images/mucopolysaccharidoses.jpg

Source: SlidePlayer.com Inc.
https://images.slideplayer.com/22/6356446/slides/slide_6.jpg

Source: Hunterpatients.com
https://www.hunterpatients.com/Content/images/consumer/download-img2.png

The webinar presents MPS and ML Overview - 2021 Insights and Overview: Dr. Joseph Muenzer

Source: National MPS Society
https://www.youtube.com/watch?v=e2tOMBvYsT0

The webinar presents advances in approaches to care and monitor MPS Disease. The following topics has been discussed in the webinar: A phase 1 clinical trial of in utero enzyme replacement therapy for fetuses with Mucopolysaccharidoses: Dr. Tippi MacKenzie Predictors of IQ in Hurler syndrome: Dr. Troy Lund

Source: National MPS Society
https://www.youtube.com/watch?v=JZSVzeiXGNA

Heather Lau, MD, Director, Lysosomal Storage Disease Program and Associate Director, Division of Neurogenetics at NYU Langone Health, provides an overview of how to manage a person with a mucopolysaccharidosis (MPS) condition during the current COVID-19 pandemic.

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

We were so fortunate to have Dr. Heather Lau with us today (March 14, 2020) for a discussion about Coronavirus and Sanfilippo syndrome; answering many questions submitted by parents of children with Sanfilippo. Dr. Lau is a pediatric neurologist and Director of the Lysosomal Storage Disorders Program at NYU School of Medicine in New York City. We wish her and her team on the front lines all the best as they continue to serve patients.

Source: Cure Sanfilippo Foundation
https://www.youtube.com/watch?v=Dn3XZiHANUE

In this episode of our MPS webinar series, our experts discuss the natural history of mps disorders: what do we know (and need to know) about cognition over time: Dr. Elsa G. Shapiro Neurobehavioral manifestations and other considerations in MPS: Dr. Julie Eisengart

Source: National MPS Society
https://www.youtube.com/watch?v=_gu3VARNWyQ

In this episode of our MPS webinar series, our experts discuss the mucopolysaccharidosis (MPS) family of diseases, in particular focusing on MPS II. The MPS diseases are a group of rare, genetic, metabolic disorders. All MPS diseases are progressive and get worse over time. The heterogenous nature of the diseases means that symptoms and severity can vary from patient to patient.

Source: Hunter Syndrome
https://www.youtube.com/watch?v=QJYy4wbVcJk

The webinar presents: Orthopedic Management of the Mucopolysaccharidoses: Dr. Klane White Bone Marrow Transplantation and Updates for MPS Disorders: Dr. Paul Orchard

Source: National MPS Society
https://www.youtube.com/watch?v=ZZ49Vu5WBsY

In this episode of the MPS Webinar Series, Dr Lampe, who has spent over a decade focused on MPS diagnosis and treatment, shares her experience of working in such a rare specialism and examines some past case studies of MPS diseases.

Source: Hunter Syndrome
https://www.youtube.com/watch?v=EjNEVoWTg8A