6th Glycoproteinoses International Conference – Translating Scientific Discovery into Therapies
2019-07-25 - 2019-07-27 | Atlanta, Georgia, United States
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
To Celebrate ISMRD’s 20th Birthday we thought it would be a great way for ISMRD to showcase its talent.
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 – USAAmelia Morrone – ItalyDag Malm – NorwayThomas Braulke – GermanyHeather Flannagan Street – USA
ISMRD Conference Committee
Jenny Noble – New ZealandJackie James – USA
Conference Donors
ISMRD is very grateful to the following companies who have provided Charitable Donations for the conference:

ISMRD's International Forum
2025-08-08 - 2025-08-09 | Graduate by Hilton Hotels, Minneapolis, United States
Speaker Bios: Medical Professionals A-L

Speaker Bios: Medical Professionals M-Z

Speaker Bios: Parents & Patients

Forum Program

Forum videos

Forum Photo Gallery

Forum Info

Join ISMRD at Our International Forum: Together We Are Strong!
When: August 8-9, 2025
Where: Graduate Minneapolis, Minnesota, USA or via live webinar
Don’t miss the opportunity to join ISMRD for our International Forum: Together We Are Strong, held in person in Minneapolis, MN, USA, or on a live webinar from August 8-9, 2025. During these two days, families, patients, doctors, researchers, and pharmaceutical companies will unite to strengthen our community and common goals. This forum is a unique chance to forge new partnerships, sow the seeds of new plans and strategies, and form new attachments. Coming together during this Forum will help us to become even stronger!
ISMRD is the leading global advocate for the nine Glycoproteinoses: Alpha-Mannosidosis, Aspartylglucosaminuria (AGU), Beta-Mannosidosis, Fucosidosis, Galactosialidosis, Mucolipidosis II Alpha/Beta, Mucolipidosis III Gamma, Schindler Disease, and Sialidosis.
The theme of our Forum, “Together We Are Strong,” aligns perfectly with ISMRD’s Mission: to detect and cure Glycoprotein Storage Diseases and to provide a global network of support and information through partnerships built with medicine, science, and industry. We have always known that working together is our greatest strength.

Event Details
For the Forum Program, please visit this link.

Thank You to ISMRD's Sponsors
Thank you to ISMRD’s International Forum Sponsors:
Platinum Sponsorship

Silver Sponsorship

Additional Support Provided By
. .
Dave Maxwell, Paul Murphy
Thank You to ISMRD’s International Glycoproteinoses Conference Past Sponsors:
Mallinckrodt Pharmaceuticals, EveryLife Foundation, Sanofi Genzyme, Office of Rare Diseses, JCR Pharmaceuticals, Moderna, Chiesi, PTC Therapeutics, Shire, Zymenex, Rock 4 Dakatah, Mercy Medical Airlift, National Institute of Health, Amicus Therapeutics, Washington University in St. Lois School of Medicine, National Institute of Neruological Disorder and Stroke, The Wagner Foundation, The Pernille Foundation, Dr. Charles Vite, Dr. Mark Haskins
