The Scientific and Family program was  combined. It was a really exciting program looking at some of the new science for this group of diseases.  

Children’s Program
Registration opens  12:30 – 2:00

Thursday July 25th

Tea and Coffee on arrival



Welcome and Introduction

ISMRD Memorial

Richard Steet/Jackie James

Jackie James/Jenny Noble

Session 1 – Emerging Areas in Lysosomal Biology                                         Chair: Richard Steet

2:30 pm

Key Note Presentation: Mannose 6-phosphate- more than a targeting signal for lysosomal enzymes

Thomas Braulke – Germany

3:15 pm

A Stepwise Mechanism for ER-to-Golgi Transport of Lysosomal Enzymes

Marco Sardiello – USA

3:40 pm

Molecular mechanisms of lysosomal mTORC1 regulation by cellular lipids

Chun-Yan Lim – USA

4:05 pm

The Greater Lysosomal System and its Role in Neurological Disease

Steve Walkley – USA

4:30 pm

Patient-driven research to identify treatments

Daniel Peach – New Zealand


Close of Day

6:30 – 8:30 Welcome Reception

Friday July 26th

Breakfast 7:30 am – 8:30 am

Session 2 – Clinical Management, Care and Support                                       Chair: Sara Cathey

8:30 am

The Webb Family – Living with Mucolipidosis II/III

Sylvia Webb – Australia


Living with Alpha-Mannosidosis

David Tonge – England


Creating a Medical Home: It really is all about YOU

Dawn Laney – USA

9:20 am

Relieving Stress and Chronic Disease

Nadia Ali  – USA

9:45 am

Cardiac Issues associated with the Glycoproteinoses

Nick Pietrus – USA


Morning Break

Session 3 – Lysosomal Biogenesis and Function                                            Chair: Enrico Moro

10:45 am

Analysis of GNPTAB missense mutations is providing insights into glycosyltransferase trafficking in the Golgi

Stuart Kornfeld – USA

11:10 am.

Organelle quality control pathways in Niemann-Pick type C disease

Andrew Lieberman – USA

11:35 am

Molecular Pathogenesis and Therapies for the Glycoprotein Storage Diseases Sialidosis and Galactosialidosis

Alessandra d’Azzo – USA

12:00 pm

Machine Learing and Chaperone Therapy for Glycoprotein Storage Diseases drug discovery

Jennifer Klein, USA


Investigating the immunomodulatory role of the sialidase Neu1 during neurodegeneration and neuroinflammation

Leigh Fremuth – USA

12:30 – 1:30 pm


1:30 pm

NEU1-mediated desialylation of the MUC1-ectodomain releases a decoy receptor that protects against P. aeruginosa lung infection

Simeon Goldblum – USA

1:55 pm

VPS51 deficiency causes a human disorder with lysosomal and glycosylation deficits

David Everman- USA

Session 4 – Disease Mechanisms and Models                                               Chair: Sandra d’Azzo


Bone homeostasis and pathology in MLII and MLIII

Sandra Pohl – Germany

2:45 pm

Cathepsin proteases as key modulators of pathogenesis in lysosomal disease

Heather Flanagan-Steet – USA

3:10 pm

Afternoon Break

3:25 pm

Epigenetic control of lysosomal biogensis and its implication for therapy of lysosomal diseases

Ida Annunziata – USA


Rewiring the pathogenic cascades underlying Mucopolysaccharidosis type II (MPs III) beyond the lysosomal substrate storage to develop novel therapeutic strategies.

Enrico Moro – Italy

4:15 pm

Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases

Charles Vite – USA

4:40 pm

Towards New-born screening for the glycoproteinoses

Tim Wood – USA


Role of membrane contact sites in the neuropathogenesis of GM1-gangliosidosis

Jason Weesner – USA


Regulation of cathepsin protease secretion by the lysosomal neuraminidase Neu1

Tong Wang – USA


UPLC-MS/MS assay develop,emt for the diagnostic measurement of tetrasaccharides for alpha-mannosidosis

Beniam Berhane – USA

5:50 pm

End of Session – Evening on your own.

Saturday July 27th

Breakfast 7:30am – 8:30am

Session 5 – Therapy                                                                                               Chair: Richard Steet

8:30 am

Preclinical gene therapy with scAAV9/AGA in aspartylglucosaminuria mice provides evidence for clinical translation

Steven Gray – USA

8:55 am

Hematopoietic stem cell transplant for the glycoproteinoses

Troy Lund – USA

9:20 am

Personalized therapy approaches for aspartylglucosaminuria

Ritva Tikkanen – Germany

9:45 am

Gene therapy approaches for ML II

Allison Bradbury – USA

10:10 am

Therapy approaches for Fucosidosis in mice

Arne Linhorst – Germany.

10:35 am

Morning Break

11:00 am

Enzyme Replacement Therapy for Alpha-Mannosidosis: Bridging the gap between EU and North America

Diego Ardigo, Italy

11:35 am

Gene Therapy for Rare Diseases: Concept to Clinic

Russell Gotschall  – USA

12:00 pm

Correction of a splicing defect in the aspartylglucosaminidase (AGA) gene

Antje Banning, Germany


Therapy options for skeletal alterations in patients with ML II and ML III alpha/beta

Lena Westermann-Germany

 12:30 pm

Lunch Break

Session 6 – Directions for Glycoproteinoses Research                                 Chair: Jenny Noble

1:30 pm

Professionals Roundtable Discussion: “The Right Animal Model”

2:15 pm

Afternoon Break – Get Coffee and bring back to meeting room

2:30 pm

Professional Rountable Discussion: “Novel Therapeutic Concepts”

3:15 pm

Future Goals for ISMRD

Mark Stark, Jackie James, Jenny Noble

4:00 pm

Close of day

6:00 pm – 7:00 pm

7:00 – 9:30pm

Pre-Dinner Drinks

Awards Dinner and ISMRD Celebration