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DTSTART;VALUE=DATE:20190725
DTEND;VALUE=DATE:20190728
DTSTAMP:20260405T182517
CREATED:20240624T220003Z
LAST-MODIFIED:20240811T142531Z
UID:764-1564012800-1564271999@www.ismrd.org
SUMMARY:6th Glycoproteinoses International Conference – Translating Scientific Discovery into Therapies
DESCRIPTION:Our 6th International Conference for Glycoprotein Storage Diseases was held in Atlanta\, Georgia\, USA! \nDate: 25 – 27 July 2019 Atlanta\, Georgia\, USA \nTheme: Translating Scientific Discovery into Therapies \nRichard Steet has agreed to be the primary investigator for the Scientific Conference. Richard’s vision for the conference is: \nThis 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. \n			\n				\n				\n				\n				\n				Conference Program\n				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 \nRegistration opens  12:30 – 2:00 \nThursday July 25th\nTea and Coffee on arrival \n\n\n\n2:00 pm\nWelcome and Introduction\nRichard Steet/Jackie James\n\n\n2:10 pm\nISMRD Memorial\nJackie James/Jenny Noble\n\n\n\n\nSession 1 – Emerging Areas in Lysosomal Biology. Chair: Richard Steet\n\n\n\n2:30 pm\nKey Note Presentation: Mannose 6-phosphate- more than a targeting signal for lysosomal enzymes\nThomas Braulke – Germany\n\n\n3:15 pm\nA Stepwise Mechanism for ER-to-Golgi Transport of Lysosomal Enzymes\nMarco Sardiello – USA\n\n\n3:40 pm\nMolecular mechanisms of lysosomal mTORC1 regulation by cellular lipids\nChun-Yan Lim – USA\n\n\n4:05 pm\nThe Greater Lysosomal System and its Role in Neurological Disease\nSteve Walkley – USA\n\n\n4:30 pm\nPatient-driven research to identify treatments\nDaniel Peach – New Zealand\n\n\n5:00 pm\nClose of Day\n\n\n\n\n6:30 – 8:30 Welcome Reception \nFriday July 26th\nBreakfast 7:30 am – 8:30 am \nSession 2 – Clinical Management\, Care and Support. Chair: Sara Cathey\n\n\n\n8:30 am\nThe Webb Family – Living with Mucolipidosis II/III\nSylvia Webb – Australia\n\n\n8:45 am\nLiving with Alpha-Mannosidosis\nDavid Tonge – England\n\n\n9:00 am\nCreating a Medical Home: It really is all about YOU\nDawn Laney – USA\n\n\n9:20 am\nRelieving Stress and Chronic Disease\nNadia Ali – USA\n\n\n9:45 am\nCardiac Issues associated with the Glycoproteinoses\nNick Pietrus – USA\n\n\n10:15 am\nMorning Break\n\n\n\n\n\nSession 3 – Lysosomal Biogenesis and Function Chair: Enrico Moro\n\n\n\n10:45 am\nAnalysis of GNPTAB missense mutations is providing insights into glycosyltransferase trafficking in the Golgi\nStuart Kornfeld – USA\n\n\n11:10 am\nOrganelle quality control pathways in Niemann-Pick type C disease\nAndrew Lieberman – USA\n\n\n11:35 am\nMolecular Pathogenesis and Therapies for the Glycoprotein Storage Diseases Sialidosis and Galactosialidosis\nAlessandra d’Azzo – USA\n\n\n12:00 pm\nMachine Learing and Chaperone Therapy for Glycoprotein Storage Diseases drug discovery\nJennifer Klein\, USA\n\n\n12:15 pm\nInvestigating the immunomodulatory role of the sialidase Neu1 during neurodegeneration and neuroinflammation\nLeigh Fremuth – USA\n\n\n12:30 – 1:30 pm\nLunch\n\n\n\n1:30 pm\nNEU1-mediated desialylation of the MUC1-ectodomain releases a decoy receptor that protects against P. aeruginosa lung infection\nSimeon Goldblum – USA\n\n\n1:55 pm\nVPS51 deficiency causes a human disorder with lysosomal and glycosylation deficits\nDavid Everman- USA\n\n\n\n\nSession 4 – Disease Mechanisms and Models Chair: Sandra d’Azzo\n\n\n\n2:20 pm\nBone homeostasis and pathology in MLII and MLIII\nSandra Pohl – Germany\n\n\n2:45 pm\nCathepsin proteases as key modulators of pathogenesis in lysosomal disease\nHeather Flanagan-Steet – USA\n\n\n3:10 pm\nAfternoon Break\n\n\n\n3:25 pm\nEpigenetic control of lysosomal biogensis and its implication for therapy of lysosomal diseases\nIda Annunziata – USA\n\n\n3:50 pm\nRewiring the pathogenic cascades underlying Mucopolysaccharidosis type II (MPs III) beyond the lysosomal substrate storage to develop novel therapeutic strategies.\nEnrico Moro – Italy\n\n\n4:15 pm\nLarge animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases\nCharles Vite – USA\n\n\n4:40 pm\nTowards New-born screening for the glycoproteinoses\nTim Wood – USA\n\n\n5:05 pm\nRole of membrane contact sites in the neuropathogenesis of GM1-gangliosidosis\nJason Weesner – USA\n\n\n5:20 pm\nRegulation of cathepsin protease secretion by the lysosomal neuraminidase Neu1\nTong Wang – USA\n\n\n5:35 pm\nUPLC-MS/MS assay develop\,emt for the diagnostic measurement of tetrasaccharides for alpha-mannosidosis\nBeniam Berhane – USA\n\n\n5:50 pm\nEnd of Session – Evening on your own\n\n\n\n\nSaturday July 27th\nBreakfast 7:30am – 8:30am \nSession 5 – Therapy Chair: Richard Steet\n\n\n\n8:30 am\nPreclinical gene therapy with scAAV9/AGA in aspartylglucosaminuria mice provides evidence for clinical translation\nSteven Gray – USA\n\n\n8:55 am\nHematopoietic stem cell transplant for the glycoproteinoses\nTroy Lund – USA\n\n\n9:20 am\nPersonalized therapy approaches for aspartylglucosaminuria\nRitva Tikkanen – Germany\n\n\n9:45 am\nGene therapy approaches for ML II\nAllison Bradbury – USA\n\n\n10:10 am\nTherapy approaches for Fucosidosis in mice\nArne Linhorst – Germany\n\n\n10:35 am\nMorning Break\n\n\n\n11:00 am\nEnzyme Replacement Therapy for Alpha-Mannosidosis: Bridging the gap between EU and North America\nDiego Ardigo\, Italy\n\n\n11:35 am\nGene Therapy for Rare Diseases: Concept to Clinic\nRussell Gotschall – USA\n\n\n12:00 pm\nCorrection of a splicing defect in the aspartylglucosaminidase (AGA) gene\nAntje Banning\, Germany\n\n\n12:15 pm\nTherapy options for skeletal alterations in patients with ML II and ML III alpha/beta\nLena Westermann-Germany\n\n\n12:30 pm\nLunch Break\n\n\n\n\n  \nSession 6 – Directions for Glycoproteinoses Research Chair: Jenny Noble\n\n\n\n1:30 pm\nProfessionals Roundtable Discussion: “The Right Animal Model”\n\n\n\n2:15 pm\nAfternoon Break – Get Coffee and bring back to meeting room\n\n\n\n2:30 pm\nProfessional Rountable Discussion: “Novel Therapeutic Concepts”\n\n\n\n3:15 pm\nFuture Goals for ISMRD\nMark Stark\, Jackie James\, Jenny Noble\n\n\n4:00 pm\nClose of Day\n\n\n\n6:00 – 7:00 pm\nPre-Dinner Drinks\n\n\n\n7:00 – 9:30 pm\nAwards Dinner and ISMRD Celebration\n\n\n\n\n  \n			\n				\n				\n				\n				\n				Children's Program\n				To Celebrate ISMRD’s 20th Birthday we thought it would be a great way for ISMRD to showcase its talent. \nSo 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. \nThe Theme for the Children’s program was: \nISMRD’s got Talent! \nThursday 25th July 2:00pm – 5:00pm \n2:00 pm \nWelcome & getting to know each other activities \nPaper\, scissors\, rock off competition \nFortnite ‘Dance offs’ \nBedazzled name tags \n\n \nFriday 26th July  \n8:30am \nMusic auditions & Talent show try-outs \n10:15am \nMorning Break \n10:45am \nIndigenous colouring & story time (Dreamtime) \nMaking musical instruments \n12:30pm \nLunch Break \n1:30pm \nArts and crafts \nCalming bottles \n3:15pm \nMusic auditions & Talent show try-outs continued \n5:30pm \nEnd of Day \n\n \nSaturday 27th July \n8:30am \nMusic lesson/choir for Awards Dinner finale – Song TBC – Million Dreams- Greatest Showman \nOrigami & chatterboxes \n10:30am \nMorning Break \n11:00am \nMusic lessons-jamming continued \n12:30pm \nLunch \n1:30pm \nStoryboard Massage \nArts & Crafts \n5:30pm \nClose of day\n			\n				\n				\n				\n				\n				Committee and Sponsors\nScientific Committee\nRichard Street – USAAmelia Morrone – ItalyDag Malm – NorwayThomas Braulke – GermanyHeather Flannagan Street – USA \nISMRD Conference Committee\nJenny Noble – New ZealandJackie James – USA \nConference Donors\nISMRD is very grateful to the following companies who have provided Charitable Donations for the conference:
URL:https://www.ismrd.org/event/the-6th-glycoproteinoses-international-conference/
LOCATION:Atlanta\, Georgia\, United States
ATTACH;FMTTYPE=image/jpeg:https://www.ismrd.org/wp-content/uploads/2024/06/ismrd-2019-conference-1.jpg
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