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6th Glycoproteinoses International Conference – Translating Scientific Discovery into Therapies
July 25, 2019 - July 27, 2019
Our 6th International Conference for Glycoprotein Storage Diseases was held in Atlanta, Georgia, USA!
Date: 25 – 27 July 2019 Atlanta, Georgia, USA
Theme: Translating Scientific Discovery into Therapies
Richard Steet has agreed to be the primary investigator for the Scientific Conference. Richard’s vision for the conference is:
This conference will once again bring basic scientists, clinicians and families together to share knowledge and inspiration as we continue towards the goal of translating basic science discoveries into therapies for the glycoproteinoses. We strive to highlight the most current advances in research and to discuss openly how these advances can be developed in treatments that will improve the quality of life for patients and families.
Conference Program
The Scientific and Family program was combined. It was a really exciting program looking at some of the new science for this group of disease
Registration opens 12:30 – 2:00
Thursday July 25th
Tea and Coffee on arrival
| 2:00 pm | Welcome and Introduction | Richard Steet/Jackie James |
| 2:10 pm | ISMRD Memorial | 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 |
| 5:00 pm | 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 |
| 8:45 am | Living with Alpha-Mannosidosis | David Tonge – England |
| 9:00 am | 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 |
| 10:15 am | 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 |
| 12:15 pm | 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
| 2:20 pm | 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 |
| 3:50 pm | 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 |
| 5:05 pm | Role of membrane contact sites in the neuropathogenesis of GM1-gangliosidosis | Jason Weesner – USA |
| 5:20 pm | Regulation of cathepsin protease secretion by the lysosomal neuraminidase Neu1 | Tong Wang – USA |
| 5:35 pm | 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 |
| 12:15 pm | 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 – 7:00 pm | Pre-Dinner Drinks | |
| 7:00 – 9:30 pm | Awards Dinner and ISMRD Celebration |
Children's Program
So whether you want to sing, dance, tell jokes, perform card tricks, read a poem you’ve written or show us anything that you are proud of please share your talent with the ISMRD family.
The Theme for the Children’s program was:
ISMRD’s got Talent!
Thursday 25th July 2:00pm – 5:00pm
2:00 pm
Welcome & getting to know each other activities
Paper, scissors, rock off competition
Fortnite ‘Dance offs’
Bedazzled name tags
Friday 26th July
8:30am
Music auditions & Talent show try-outs
10:15am
Morning Break
10:45am
Indigenous colouring & story time (Dreamtime)
Making musical instruments
12:30pm
Lunch Break
1:30pm
Arts and crafts
Calming bottles
3:15pm
Music auditions & Talent show try-outs continued
5:30pm
End of Day
Saturday 27th July
8:30am
Music lesson/choir for Awards Dinner finale – Song TBC – Million Dreams- Greatest Showman
Origami & chatterboxes
10:30am
Morning Break
11:00am
Music lessons-jamming continued
12:30pm
Lunch
1:30pm
Storyboard Massage
Arts & Crafts
5:30pm
Close of day
Committee and Sponsors
Scientific Committee
Richard Street – USA
Amelia Morrone – Italy
Dag Malm – Norway
Thomas Braulke – Germany
Heather Flannagan Street – USA
ISMRD Conference Committee
Jenny Noble – New Zealand
Jackie James – USA
Conference Donors
ISMRD is very grateful to the following companies who have provided Charitable Donations for the conference:
