Videos from the 15th Annual International Symposium on MPS and Related Diseases

Over the summer we hosted the 15th Annual Symposium on MPS and Related Diseases in San Diego where researchers and families gave a series of talks outlining the current trends in scientific discover as well as family assistance and discussions in clinical management. 

Videos from the 15th Annual International Symposium on MPS and Related Diseases.

The Welcoming Ceremony at the 15th Annual International Symposium on MPS and Related Diseases

Opening remarks and a welcoming address from Patti Dickson, MD and Stephanie Bozarth from the United States.

A video presentation from Emil Kakkis, MD, PhD of the United States titled: 21st Century Rare Disease Ecosystem – Research, Science, Regulatory Patient Centered Care

MPS Adult presentations from Melissa Bilodeau, MPS IVA

from Canada and Carolina Tagliapietra Hartmann MPS VI from Brazil.

The ceremony ends with a highly entertaining discussion of Scientific Challenges of New Therapies in the 21st Century by Brian Bigger, PhD of the United Kingdom.

Opening Clinical Sessions with Alfred Wiesbauer, MPH Moderator from Switzerland

Opening sessions from the 15th Annual International Symposium on MPS and Related Diseases.

Diagnostic Odyssey within Rare Diseases

Barbara Burton, MD from the United States discusses Newborn Screening and How to Collapse the Diagnostic Odyssey for Future Generations.

Then, Jama Nateqi, PhD from Austria gives his take on the diagnostic journey and how to unlock the mystery of rare diseases.

These talks took place at the 15th Annual International Symposium on MPS and Related Diseases.

Scientific Sessions From the 15th Annual International Symposium on MPS and Related Diseases

Johnathon Cooper and Julie Eisengart host seven presentations that cover the following:

The complexity of “simple” monogenic diseases: insights from Niemann-Pick disease type C by Frances Platt, PhD, FMedSci

from the UK

Synaptic Dysfunction in Sanfilippo Type C Syndrome by Camila De Britto Para De Aragao from Canada

Neuropathology and neuroimaging reveal progressive myelin related changes in the white matter of a canine model of MPS I by Martin Egeland, PhD from the United States

Intracerebroventricular delivery of BMN 250 is effective in preventing neuropathological changes in the cerebellum and forebrain of a canine model of Sanfilippo Type B also by Martin Egeland, PhD from the United States

SGSH haploinsufficiency: a risk factor for early-onset neurodegenerative disease? by Kim Hemsley, PhD from Australia

Brain targeted stem cell gene therapy corrects Mucopolysaccharidosis type II via multiple mechanisms by Rebecca Holley of the UK

Pharmacology of BMN 250: Brain magnetic resonance studies in treated MPS IIIB affected dogs by Igor Nestrasil, MD, PhD from the United States

Writing our Future for MPS and Related Diseases

A panel talk moderated by Carmen Kunkel.

Terri Klein, CEO of the National MPS Society discusses collaborative efforts for family caregivers.

Stephanie Bozarth, Chair of the National MPS Society Board, and Bob Stevens, CEO of MPS Society UK, give a panel discussion about Registries, Advocacy, and Newborn Screening: Magnifying the Patient Voice.

And finally, Ana Mendoza, President of the Spanish MPS Society presents the location of the 2020 International Symposium, Barcelona.

The Importance of Research and Advocacy Group Collaboration

Terri Klein moderates a series of talks from Michelle Berg, Mathias Schmidt, Stephen Yoo, Lorne Clarke, Amy Holland, and Kendra Bjoraker that cover emerging therapies and navigating clinical trials from within the family.

Charting Optional Therapies / Research Animal Model Updates

Michaela Weigl moderates a discussion about charting optional therapies and gives an update on animal research models. Paul Orchard, Jenny Noble, Alan Fowler, and Shunji Tomatsu join in with their own updates and information.

Charting New Science in MPS and Related Diseases

Moderator Jenny Noble leads a discussion on on leading scientific research and discoveries in MPS and related diseases at the 15th Annual International Symposium. She is joined by Paul Harmatz, Steven Gray, Kendra Bjoraker, Melissa Hogan, and Carl Kapes.

Charting New Science in MPS and Related Diseases Part 2

Moderator Jenny Noble leads a discussion on on leading scientific research and discoveries in MPS and related diseases at the 15th Annual International Symposium. She is joined by Paul Harmatz, Steven Gray, Kendra Bjoraker, Melissa Hogan, and Carl Kapes.

My Life is More than My Diagnosis

A group discussion hosted by Terri Klein, CEO of the National MPS Society at the 15th Annual International Symposium on MPS and Related Diseases. In it Stacy Hewson MPS IVA, Sheri Wise MPS IVA, Jennifer Klein ML III, Kendra Gottsleben MPS VI, Adele Kary MPS I, and Erica Thiel MPS I discuss transitioning to adulthood with a rare genetic disorder.

My Life is More than My Diagnosis Part II

A group discussion hosted by Terri Klein, CEO of the National MPS Society at the 15th Annual International Symposium on MPS and Related Diseases. In it Stacy Hewson MPS IVA, Sheri Wise MPS IVA, Jennifer Klein ML III, Kendra Gottsleben MPS VI, Adele Kary MPS I, and Erica Thiel MPS I discuss transitioning to adulthood with a rare genetic disorder.

Next Generation Treatments and Combination Therapies with Bob Stevens

Bob Stevens, MPS Society UK, hosts a panel discussion on Next Generation MPS Treatments and Therapies with Michael Beck, Mark Sands, Chet Whitley, Brian Bigger, and Paul Harmatz. Topics include Gene Therapy, Stem Cells, and Immunological Obstacles.

This is part one of two filmed at the 15th Annual International Symposium on MPS and Related Diseases in San Diego, August 3rd.

Next Generation MPS Treatments and Therapies Panel Discussion, Part Two

Bob Stevens, MPS Society UK, hosts a panel discussion on Next Generation MPS Treatments and Therapies with Michael Beck, Mark Sands, Chet Whitley, Brian Bigger, and Paul Harmatz. Topics include Gene Therapy, Stem Cells, and Immunological Obstacles.

This is part two of two filmed at the 15th Annual International Symposium on MPS and Related Diseases in San Diego, August 3rd.

Best Practices in Clinical Management with Elsa Shapiro, PhD, ABPP

Measuring Neurocognitive Function:

Best Practices in Clinical Management and Clinical Trials with Elsa Shapiro

From the 15th Annual International Symposium on MPS and Related Diseases

Discussing Hip Disease in MPS Patients with Kevin Walker, MD

Discussing Hip Disease in MPS Patients with Kevin Walker, MD at the 15th Annual International Symposium on MPS and Related Diseases.

Challenges and Opportunities Through the Regulatory Lens

Patroula Smpokou, MD of the FDA discusses the Challenges and Opportunities with Rare Disease Drug Development at the 15th Annual International Symposium on MPS and Related Diseases in San Diego.