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Leading the Fight to treat and cure
Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Folder NTSAD Research Initiatives

Categories

Folder NTSAD Conference Research Update Sessions

This folder contains slide presentations, handouts and other materials relating to the Research Update session at the NTSAD Annual Family Conferences. Please do not alter, publish or copy without permission from NTSAD. 

Documents

pdf NTSAD Funded Research Projects 2002-2018 Popular

1680 downloads

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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

62 downloads

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BioStrategiesAnnounces GM1 PhII-SBIR (1).pdf

document RR August 2017 Popular

166 downloads

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RR August 2017.docx

Image Heat Shock Protein Popular

157 downloads

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Heat-Shock-Protein.jpg

pdf NTSAD Research Initiative Funded Projects Popular

930 downloads

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NTSAD Funded Research 2002-2017.pdf

pdf Active NTSAD Research Grant Projects Popular

498 downloads

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

pdf 2017 Research Booklet Popular

778 downloads

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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

719 downloads

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2017-Research-Booklet (1).pdf

document Research Summary Sjoberg Popular

863 downloads

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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

927 downloads

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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

1578 downloads

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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

804 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

1021 downloads

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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

932 downloads

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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

975 downloads

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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

948 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

1079 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

815 downloads

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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

913 downloads

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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

825 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

1069 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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