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.
Tea and Coffee on arrival
2:00pm
2:10pm
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
5:00pm
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
8:45am
Living with Alpha-Mannosidosis
David Tonge – England
9:00am
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
10:15am
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
12:15pm
Investigating the immunomodulatory role of the sialidase Neu1 during neurodegeneration and neuroinflammation
Leigh Fremuth – USA
12:30 – 1:30 pm
Lunch
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
2:20pm
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
3:50pm
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
5:05pm
Role of membrane contact sites in the neuropathogenesis of GM1-gangliosidosis
Jason Weesner – USA
5:20pm
Regulation of cathepsin protease secretion by the lysosomal neuraminidase Neu1
Tong Wang – USA
5.35pm
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
12:15pm.
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