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Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Folder NTSAD Research Initiatives

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pdf NTSAD Research Initiative Program RFP 2023 Popular

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NTSAD Research Initiative Program RFP 2023.pdf

document Gray Edwards NTSAD Lay Summary 0919 Popular

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Gray-Edwards NTSAD Lay Summary 0919.docx

pdf NTSAD d'Azzo Lay summary 2019 Popular

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NTSAD d'Azzo_Lay summary_ 2019.pdf

pdf Lay progress report Jiang 12 months Popular

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Lay progress report_Jiang 12 months.pdf

pdf Lehotay Final Report 0719 Popular

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Lehotay-Final-Report-0719.pdf

pdf Gritti Final report 0719 Popular

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Gritti-Final-report-0719.pdf

pdf NTSAD Funded Research Projects 2002-2018 Popular

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for web site - funded research projects 2002-18 updated 7-19-18.pdf

pdf NIH Research Grant Awarded to BioStrategies LC

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BioStrategiesAnnounces GM1 PhII-SBIR (1).pdf

document RR August 2017 Popular

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RR August 2017.docx

Image Heat Shock Protein Popular

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Heat-Shock-Protein.jpg

pdf NTSAD Research Initiative Funded Projects Popular

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NTSAD Funded Research 2002-2017.pdf

pdf Active NTSAD Research Grant Projects Popular

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Active Research Grants as of May%2c 2017.pdf

pdf 2017 Research Booklet Popular

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2017-Research-Booklet (1).pdf

This booklet is a compilation of summaries of research work in the field of lysosomal storage and leukodystrophy diseases. It was created to accompany the NTSAD Research Session at the 2017 Annual Family Conference in Dallas, Texas on March 31, 2017. 

pdf 2017 Research Booklet (1) Popular

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2017-Research-Booklet (1).pdf

document Research Summary Sjoberg Popular

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Sjoberg-summary.docx

Goals of the proposal:

  • Create a specific missense point mutation in the beta chain of hexosaminidase that can be rescued by pharmacological chaperones, small molecules that selectively bind and stabilize certain point mutations, in order to test efficacy of chaperones that are being developed for Late Onset Tay-Sachs and Sandhoff.
  • Compare brain levels of beta-hex, GA2, and GM2 levels in homozygous knock-in mice to determine biochemical effects of knock-in.

Impact of research: Pharmacological chaperones represent a new class of treatment for patients with diseases that result from destabilization, unfolding, or misfolding of a protein. The current GM2 mouse model is a hexosaminidase knock-out (hex-/-), which does not produce any of the target protein and therefore cannot be used to evaluate various chaperones ability to bind and stabilize the protein. Creation of a knock-in mouse with a point mutation, which is equivalent to a known human late onset mutation, will allow analysis of in vivo dosing effects of specific chaperones that have already been developed.  The mouse model will be made available for other late onset research.

This grant is made available by the Katie and Allie Buryk Research Fund.

pdf Progress Report BIOSTRATEGIES 12-month Popular

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BIOSTRATEGIES 12 mo NTSAD Summary Report.pdf

One-Year Progress Report to National Tay-Sachs & Allied Diseases Association

BioStrategies LC
Lectin-assisted transnasal delivery of corrective enzyme for GM1 gangliosidosis

Investigators: David N. Radin, Carole L Cramer, Alessandra d'Azzo (SJCRH)

Executive Summary:
Genetic deficiencies in the lysosomal enzyme β-galactosidase (β-gal) lead to the neurodegenerative disease GM1 gangliosidosis. Traditional enzyme replacement therapy (ERT) approaches are ineffective because they fail to deliver sufficient enzyme to the brain. Our goal in this research, is to determine if the plant RTB lectin (sugar-binding protein) can help to carry β-gal across nasal mucosal surfaces and increase access to the brain using the mouse model of GM1. Fusion proteins linking β-gal with the RTB lectin will be produced in a plant-based protein production system and the purified protein will be administered trans-nasally to β-gal-/- mice to determine if active enzyme reaches the cells of the brain.

pdf 12 month Progress Report Lee Snyder 6 2012 Popular

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12-month-Progress-Report_Lee-Snyder_6-2012.pdf

A progress report on the Therapeutic Potential of Human-Induced Pluripotent Stem Cells (IPSCs) in the Sandhoff Disease Mouse Model of Lysosomal Storage Disorders

pdf RFP guidelines 12 2013 Popular

2634 downloads

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RFP-guidelines_12-2013.pdf

The request for proposals from NTSAD, 

NTSAD is soliciting proposals for innovative research projects that involve basic research, translational studies or clinical studies in the areas of neurodegenerative disorders affecting the CNS, especially lysosomal storage disorders (such as Tay-Sachs, GM-1, Sandhoff) and pediatric leukodystrophies (such as Canavan).

pdf PROGRESS REPORT Taurine Conjugated GM2 Li Popular

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PROGRESS-REPORT_Taurine-Conjugated-GM2_Li.pdf

Six Months Progress Report: Studies of Taurine-conjugated GM2 in Tay-Sachs Disease (Jan 2012).

pdf PROGRESS REPORT Therapeutic Potential Pluripotent Stem Cells Sandhoff Lee Snyder Popular

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PROGRESS-REPORT_Therapeutic-Potential-Pluripotent-Stem-Cells-Sandhoff_Lee-Snyder.pdf

A Progress Report on the, "Therapeutic Potential of Human-Induced Pluripotent Stem Cells (IPSCs) in the Sandhoff Disease Mouse Model of Lysosomal Storage Disorders"

pdf Progress Report Platt 18 month Popular

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Progress-Report_Platt_18-month.pdf

Progress Report: NTSAD/CTSF Grant: Platt, Platt and Cerundolo - February 2012

pdf Progress Report Maegawa 12 month Summary Popular

2687 downloads

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Progress-Report_Maegawa_12-month-Summary.pdf

The progress report on MLD 6-12 months into research. 

pdf Progress Report Maegawa FINAL MLD lay summary Popular

3017 downloads

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Progress-Report_Maegawa_FINAL_MLD-lay-summary.pdf

A final summary on the Lay language and MLD.

pdf Progress Report corrected NTSAD Grant 1yr Popular

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Progress-Report_corrected_NTSAD-Grant-1yr.pdf

The corrected final progress report for Gao.

pdf Progress Report Eichler 12 month Outcome Measures 2 2012 Popular

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Progress-Report_Eichler-12-month_Outcome-Measures_2-2012.pdf

A Progress Report on, the “Clinical Outcome Measures for Gene Therapy Trial in Infantile and Juvenile GM2”.

pdf Funded Research Projects 2002 2013 one page Popular

2623 downloads

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Funded-Research-Projects-2002-2013_one-page.pdf

A list of funded research projects from 2002- 2013 (the first page).

pdf Funded Research Projects 4 2 13 excluding LSDRC Popular

3316 downloads

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Funded-Research-Projects-4-2-13-excluding-LSDRC.pdf

A list of the funded research projects excluding LSDRC.

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