Leading the worldwide fight to treat and cure
Tay-Sachs, Canavan, GM1 and Sandhoff diseases

Folder Abstracts

Documents

pdf Poster Futerman Popular

136 downloads

Download (pdf, 180 KB)

Poster Futerman.pdf

pdf Layman progress report Jiang(Aug 2019 Jan 2020) Popular

128 downloads

Download (pdf, 162 KB)

Layman progress report_Jiang(Aug 2019 - Jan 2020).pdf

pdf NTSAD2021 summary d'Azzo Popular

135 downloads

Download (pdf, 110 KB)

NTSAD2021_summary_d'Azzo.pdf

pdf Sanofi Genzyme GM2 Patient Journey Poster Popular

129 downloads

Download (pdf, 289 KB)

Sanofi Genzyme GM2 Patient Journey Poster.pdf

pdf 2019 September NTSAD d'Azzo Lay Summary 2019 Popular

656 downloads

Download (pdf, 27 KB)

2019 September NTSAD d'Azzo_Lay summary_ 2019.pdf

Role of Plasma membrane-ER Contact Sites in GM1-mediated Neuronal Cell Death

Alessandra d’Azzo
Department of Genetics
St. Jude Children’s Research Hospital,
Memphis TN

pdf 2019 September Gray Edwards NTSAD Lay Summary 0919 Popular

665 downloads

Download (pdf, 109 KB)

2019 September Gray-Edwards NTSAD Lay Summary 0919.pdf

Minimally invasive delivery of AAV gene therapy in the Tay-Sachs sheep

The goal is to determine the efficacy of AAV gene therapy using established biomarkers after CSF delivery.

Heather Gray-Edwards, PhD, DVM
Department of Radiology
UMass Medical School

pdf 2019 September Lay Progress Report Xuntian Jiang 12 months Popular

680 downloads

Download (pdf, 164 KB)

2019 September Lay progress report_Jiang 12 months.pdf

Oligosaccharide Biomarkers for Disease Progression and AAV Therapeutic Efficacy in
GM1Gangliosidosis

pdf RT001 to Treat Neurodegeneration - Poster Presentation AAN 5 19 Popular

759 downloads

Download (pdf, 92 KB)

Poster Presentation_AAN_5-19.pdf

At the May 2019 American Academy of Neurology Scientific Sessions, Dr. Robert Molinari presented Retrotope’s poster presentation entitled: “RT001 to Treat Neurodegeneration--Case Study: Improvement in a Single Patient with Late Onset Tay-Sachs Disease (LOTS).RT001 is a di-deuterated isotope of linoleic acid (D-LA) that is readily incorporated into membranes and prevents oxidative damage.

pdf Natural History of LOTS - LDN-Eichler - Feb 2012 Popular

2537 downloads

Download (pdf, 630 KB)

Natural History of LOTS - LDN poster - Eichler - Feb, 2012.pdf

pdf Poster Session DP2 Gangliosides Popular

2363 downloads

Download (pdf, 63 KB)

Poster_Session_DP2_Gangliosides.pdf

pdf Poster Session PSM06 Metabolism Popular

2916 downloads

Download (pdf, 344 KB)

Poster_Session_PSM06_Metabolism.pdf

Plenary Talk P01: Experience-dependent modification of neural circuits – cellular and molecular mechanism

pdf ABSTRACT NextGen Sequencing HEXA Popular

2308 downloads

Download (pdf, 253 KB)

ABSTRACT_NextGen-Sequencing-HEXA.pdf

NextGen Sequencing of HEXA: A more sensitive assay

Login