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

Folder Monthly Research Reviews

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document 2018 February 16 NTSAD Monthly Research Review New

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2018 February 16 NTSAD Monthly Research Review.pdf

In this issue:

NTSAD Research Initiative Grants: Updates

Novel combined gene/cell therapy strategies to provide full rescue of the Sandhoff pathological phenotype
Principal Investigator: Angela Gritti, PhD
Institution: San Raffaele Telethon Institute for Gene Therapy
Progress Report after Year 1

Development and validation of a rapid, MS/MS-based method to detect Hexosaminidase deficiency in Tay-Sachs disease
Principal investigator: Denis C. Lehotay, PhD
Institution: Queens University

Clinical outcomes and brain metabolites in patients with late onset Tay-Sachs and Sandhoff disease
Cynthia J. Tifft, Camille Wang, Jean Johnston, Katherine Alter, Edythe Wiggs, Beth I. Solomon, Colleen E. Wahl, MIchele Nehrebecky, Rena Godfrey, Lea Latham, Catherine Groden, Eva Baker, Tanya Lehky, Camilo Toro

Functional performance in late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), longitudinal data over 3 consecutive years
Ana C. Puga, Alaa Hamed, Julie Kissell, Pascal Minini, Anureet K. Pabla, Susan Kahn, Florian Eichler, Christopher D. Stephen, Cynthia J. Tifft, Camilo Toro, Jean Johnston, Heather A. Lau, Elizabeth Haxton, Heather Gray-Edwards, Tanya Fischer

Reclassification of common variants of unknown significance in the hexosaminidase A gene: implications for Tay-Sachs carrier screening
Elizabeth D Smith , Karen A Grinzaid, Melanie Hardy, Alana Cecchi, Laura Kiger, Dale Muzzey, Eerik Kaseniit, Krista Moyer

Also:
14th Annual WORLD Symposium: Highlights
Encouraging News from the Cure & Action for Tay-Sachs (CATS) Foundation

document 2018 January 19 NTSAD Monthly Research Review New

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2018 January 19 NTSAD Monthly Research Review.pdf

In this issue:

University of Pennsylvania Orphan Disease Center Million Dollar Bike Ride Grant Award for Team NTSAD:

Brain MRI signatures in infants with infantile forms of GM-1 and GM-2
Principal Investigator, Igor Nestrasil, MD, PhD, University of Minnesota

GM2 Tay-Sachs & Sandhoff Patient Insights Network (PIN)

Rare Disease Day: February 28, 2018

UPDATE: NTSAD and Cure Tay-Sachs Foundation (CTSF) partner for the 2018 Request for Proposals

FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss

Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice

WORLD Symposium Meeting
February 5-9,201, San Diego, California

 

pdf 2017 December Request for Proposals Popular

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Research Review Special Edition Dec 8 2017.pdf

Pre-applications due on January 12, 2018


This year, NTSAD will be joined by the Cure Tay-Sachs Foundation (CTSF) in this RFP. CTSF is a grassroots organization focused on funding Tay-Sachs research since its inception by parents just over ten years ago.

Grants will be awarded for an initial period of one year at up to $40,000 direct costs per year (5% indirect cost rate); funding for a second year is predicated by adequate progress during year 1. The application will use a two-step process. First, a one page pre-application will be submitted. From these pre-applications, investigators will be chosen to submit a full application. The application format and review criteria are specified on page 2 of this RFP.

The deadline for submission of one-page pre-applications is January 12, 2018.

 

document 2017 December Monthly Research Review - A Monthly Update from NTSAD Popular

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Research Review 12-15-2017.pdf

In this issue:

  • NTSAD Partners with Cure Tay-Sachs Foundation (CTSF) for 2018 Request for Proposals
  • Paper Published by NTSAD 2017 Grant Recipient, Dr. Alessandra Biffi details a new promising approach to lentiviral gene therapy - Intracerebroventricular delivery of hematopoietic progenitors results in rapid and robust engraftment of microglia-like cells
  • What is “Expanded Access?"
  • IntraBio Update
  • Case study detailing results of bone marrow transplantation in a juvenile Tay-Sachs patient- Haematopoietic Stem Cell Transplantation Arrests the Progression of eurodegenerative Disease in Late-Onset Tay-Sachs Disease
  • Going Big: How Massachusetts General Hospital (MGH) Neurology is Using Big Data for Big Benefits

document 2017 November Monthly Research Review - A Monthly Update from NTSAD Popular

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Research Review 11-20-2017.pdf

In this Issue:

  • Final Report for Research Project - The Hexosaminidase A Variants of Unknown Significance (HAVUS)
  • Committee Opinion - carrier screening panels to test individuals or couples for a number of disease genes at the same time, American College of Obstetricians and Gynecologists
  • GM1 Patient Insight Network Launch
  • 2017 Imagine & Believe: A Conversation with Our Honorees
  • Reflections on 10 years By Sue Kahn, Executive Director
  • Sangamo Therapuetics announced that they have treated the first patient in a landmark Phase 1/2 clinical trial evaluating in vivo genome editing for mucopolysaccharidiosis II (MPS II), also known as Hunter Syndrome

pdf 2017 October Monthly Research Review - A Monthly Update from NTSAD

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2017 October 20 Research Review - A Monthly Update from NTSAD.pdf

In this issue:

  • OrPhi Therapeutics SBIR Award
  • Grant funded for research project “Accelerated program for CSF delivery of AAV gene therapy for Tay-Sachs and Sandhoff patients”
  • Individualized Medicine Conference and Lysosomal Disease Symposium
  • 2017 Day of Hope Results
  • What is Tanganil? Clinical trials for acetyl-DL-leucine (IB-1000) on the horizon
  • Luxturna, first gene therapy for inherited disease recommended for approval
  • Stem cell gene therapy shows positive results in clinical trials for an inherited leukodystrophy
  • Prospective natural history in GM1 and GM2 gangliosidoses
  • Enzyvant Initiates Farber Disease Natural History Study
  • Our Heritage and Our Health: Ashkenazi Jewish Genetic Diseases and the Founder Effect

pdf 2017 September Monthly Research Review - A Monthly Update from NTSAD

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2017 Sep 20 Research Review - A Monthly Update from NTSAD.pdf

In this issue:

  • Lectin-assisted transnasal delivery of corrective enzyme for GM1 gangliosidosis (Final Report)
  • Late Onset Tay-Sachs Registry & Repository
  • Defining the Natural History of Canavan Disease through development of an International Registry
  • IntraBio Clinical Trials for Tay-Sachs Disease IB1000
  • Lysosomal Disease Symposium, Wednesday, October 11, 2017
  • Temple Eanuel event October 29, 2017, Our Heritage and Our Health - Ashkenazi Jewish Genetic Diseases and the Founder Effect
  • 2017 Day of Hope Results and Somm Time Wine Bar event in NYC, October 5, 2017

pdf 2017 August Monthly Research Review - A Monthly Update from NTSAD Popular

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2017 August 14 Research Review - A Monthly Update from NTSAD.pdf

In this issue:

Orphazyme and Heat Shock Protein, American Academy of Neurology research program, Individualizing Medicine Conference, Oct 2017, Our Heritage and Our Health - Ashkenazi Jewish Genetic Diseases and the Founder Effect, Carey Goldberg of RadioBoston on the CRISPR story, 2017 Day of Hope

pdf 2017 July Monthly Research Review - A Monthly Update from NTSAD Popular

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2017 July 14 Research Review - A Monthly Update from NTSAD.pdf

In this issue:

RESEARCH INITIATIVE: PROGRESS UPDATES

Off-cycle Grant Announcements 

pdf 2017 June Research Review - A Monthly Update from NTSAD Popular

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2017 June 23 Research Review - A Monthly Update from NTSAD.pdf

In this issue:

Canavan Update including Natural History Studies, AltaVoice: Canavan Patient Insight Network, and What is Canavan Disease?

 

pdf 2017 May Research Review - a Monthly Update from NTSAD Popular

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Research Review - May 2017.pdf

pdf 2017 Mar 24 Research Review - A Monthly Update from NTSAD Popular

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2017 Mar 24 Research Review - A Monthly Update from NTSAD.pdf

pdf 2017 Feb 10 Research Review - A Monthly Update from NTSAD Popular

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2017 Feb 10 Research Review - A Monthly Update from NTSAD.pdf

pdf 2017 Jan 20 Research Review - A Monthly Update from NTSAD Popular

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2017 Jan 20 Research Review - A Monthly Update from NTSAD.pdf

pdf 2016 December Research Review Popular

1177 downloads

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2016 December NTSAD's Monthly Research Review.pdf

pdf 2016 November Research Review Popular

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Research Review 11-18-16.pdf

pdf 2016 October Research Review Popular

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Research Review 10-14-16.pdf

pdf 2016 September Research Review Popular

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Research Review 9-16-16.pdf

pdf 2016 August Research Review Popular

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Research Review 8-19-16.pdf

pdf 2016 July Research Review Popular

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Research Review 7-15-16.pdf

pdf 2016 June Research Review Popular

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Research Review 6-10-16.pdf

This issue gives the summaries of the 2016 NTSAD Research Initiative grant recipients.

pdf 2016 May Research Review Part II Popular

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Research Review 5-14-16.pdf

This issue features summaries of the presentations made during the NTSAD 2016 Annual Family Conference GM-1 Research Meeting held on Saturday, April 9, 2016 in Orlando, Florida. Co-sponsored with Cure GM-1 and Lysogene.

pdf 2016 May Research Review Part I Popular

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Research Review 5-13-16.pdf

This issue features summaries of the presentations made during the NTSAD 2016 Annual Family Conference Research Update session held on Friday, April 8, 2016 in Orlando, Florida.

pdf 2016 April Research Review Popular

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Research Review 4-29-16.pdf

Research Grant progress reports and updates, gene therapy in the news, 

pdf 2016 March Research Review Popular

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Research Review 3-18-16.pdf

WORLD Meeting Summaries from 2016 meeting

pdf 2016 February Research Review Popular

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Research Review 2-15-16.pdf

New Late Onset grant, MRI and MRS as surrogate markers for GM1 progression, Jacob Sheep 

pdf 2016 January Research Review Popular

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Research Review 1-15-16.pdf

CRISPR, Is Traumatic Brain Injury Reversible?, and RFP for 2016 grant cycle

pdf 2015 November Research Review Popular

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2015 November NTSAD Monthly Research Review.pdf

About GM-1, updates on GM-1 research, and other research news.

pdf 2015 October Research Review Popular

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Research Review 10-16-15.pdf

pdf 2015 September Research Review Popular

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Research Review 9-14-15.pdf

pdf 2015 August Research Review Popular

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Research Review 8-14-15.pdf

2015 October Research Review - Drug Pricing Controversy Popular

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2015 October NTSAD's Research Review - Drug Pricing Controversy.htm

In This Issue:

What is Pyrimethamine?
What's the Story with Daraprim?
What is off-label use?
What is Pharmacological Chaperone?
21st Century Act Passes
2015 Day of Hope
Late Onset Natural History Studies

 

2015 September Monthly Research Review - Canavan Awareness Month Popular

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2015 September NTSAD's Research Review - Canavan Awareness Month.htm

In this issue:

Leukodystrophy Awareness
What is Canavan Disease?
What's Happening with Canavan Research?
Research Grant Pre-Application Deadline
2015 Day of Hope

2015 August NTSAD's Research Review - Patient Input Essential for Research Popular

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2015 August NTSAD's Research Review - Studies Essential for Research.htm

In This Issue:

The Importance of Natural History Studies
Late Onset Focus Group and Assessment Update
Rare Disease Grant Opportunity
2015 Fifth Annual Day of Hope

2015 July NTSAD's Research Review - Raise Funds for Research Popular

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2015 July NTSAD's Research Review - Raise Funds for Research.htm

In this Issue

Fifth Annual Day of Hope, Sept. 19, 2015
An International Flair to Benefit Research
Teeing off for Research a Success!
Coming Soon: Million Dollar Bike Ride
NTSAD Scientific Advisory Committee
NTSAD Corporate Advisory Council
Grant Opportunitye, National Organization for Rare Disorders (NORD)
Published Paper Addresses Pyrimethamine

2015 June NTSAD's Research Review 2015 Grant Awards Announced Popular

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2015 June NTSAD's Research Review 2015 Grant Awards Announced.htm

In this issue:

NTSAD has maintained a strong commitment to funding research over the years to advance its mission to lead the fight to treat and cure Tay-Sachs, GM-1, Sandhoff, Canavan, and other related genetic diseases.

This year NTSAD is pleased to announce the 2015 Research Initiative Grants totaling $266,000 thanks to many generous research supporters.

 

2015 May Monthly Research Review Popular

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May 1 2015 NTSAD's Monthly Research Review.html

A Summary of the NTSAD Science Symposium & Workshop for Professionals
Allison Bradbury, PhD, Diane Golebiowski
and Staci Kallish, DO, co-editors

  • Common Elements of the Pathogenesis of Neurodegenerative diseases
  • Clinical trial design and outcome measures for diseases affecting the CNS: FDA perspective
  • Specific issues relating to the gangliosidoses
  • Specific issues in the leukodystrophies
  • Small Molecule Approaches
  • Gene therapy: current status and future
  • Newborn  Screening : What is the role of NBS in developing therapies for pediatric neuro-degenerative diseases?
  • NTSAD's diseases: What are the outstanding issues in clinical trial readiness?

Highlights from Roundtable Discussions at NTSAD's 2015 Annual Family Conference Research Session

  • What's New in Carrier Screening
  • NTSAD-funded project: "Lectin-assisted transnasal delivery of corrective enzyme for GM1 gangliosidosis"
  • Gene Therapy: Tay-Sachs Gene Therapy Consortium (NTSAD-funded) and GM1 Gene Therapy
  • The Importance of Natural History Studies, Registries, and Clinical Outcome Measures

 

2015 March NTSAD Monthly Research Review Popular

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2015 March NTSAD's Monthly Research Review.html

This issue reviews Biomarkers.

IT'S ALL ABOUT THE BIOMARKERS
Allison Bradbury, PhD and Staci Kallish, DO, Co-editors

BIOMARKERS IN FELINE SANDHOFF DISEASE
Published in the journal "Experimental Neurology" January 2015
 
BIOMARKERS IN GM1 and GM2
Published "Molecular Genetics and Metabolism"

pdf 2-9-15 Research Review WORLD Meeting Popular

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RR_2-20-15_WORLD-Lysogene.pdf

This issue of NTSAD Research Review shares:

Highlights from the Lysosomal Disease Network (LDN) 11th Annual WORLD meeting in Florida. Staci Kallish summarized talks about natural history studies, substrate reduction therapy, modifying enzymes, biomarker studies, enzyme replacement therapy and a new technology for enzyme delivery.

Announcement Lysogene's strategic collaboration with University of Massachusetts Medical School and Auburn University to develop the pre-clinical studies need to bring gene therapy for GM1 to clinical trial.

pdf 1-16-15 Research Review TSGT Update Popular

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RR_1-16-15_TSGT-Subcom.pdf

This issue of NTSAD's "Research Review" contains information on:

A progress report summary for Milestone II in the Tay-Sachs Gene Therapy Consortium research;

An introduction to NTSAD's Scientific Advisory Committee's Subcommittee on Therapies with the issue of Paper #1 on Substrate Reduction Therapies

pdf 12-12-14 Research Review Year in Review Popular

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RR_12-12-14_Year-in-Review.pdf

This issue of NTSAD's "Research Review" looks back at 2014's news and updates in research, as well as looking ahead to 2015.

pdf 11-14-14 Research Review U.C. Davis Stem Cell Popular

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RR_11-14-14_Stem-Cell-NPC.pdf

This issue of NTSAD's "Research Review" contains information on:

Dr. Gerhard Bauer's work on a combined treatment approach using stems cells and gene therapy at U.C. Davis;

Information regarding the link between Niemann Pick Type C and the Ebola virus;

Other updates on NTSAD's two-year grant to BioStrategies and their work to develop a therapy for GM1, and an update on the Jacob Sheep at Auburn University.

pdf 10-17-14 Research Review Dr. D'Azzo Project Popular

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10-17-14_Research-Review_ Dr-D'Azzo-project.pdf

This issue of NTSAD's "Research Review" contains information on:

The summary of results for Dr. D'Azzo's two-year research project on the commonalities between sialidosis and Alzheimer's disease. This study allows a better understanding of lysosomal function which may be useful in understanding on lysosomal storage disorders.

pdf 9-19-14 Research Review Day of Hope Popular

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RR_9-19-14_DoH.pdf

This issue of NTSAD's "Research Review" contains information on:

The Fourth Annual Day of Hope benefiting research;

An explanation of the NTSAD Research Initiative and the importance of Natural History Studies;

Summaries of natural history studies conducted.

pdf 8-15-14 Research Review Three Year Sheep Study Completed Popular

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8-15-14_Research-Review_Three-Year-Sheep-Study-Completed.pdf

This issue of NTSAD's "Research Review" contains a summary of a three year completed study of Jacob Sheep at Auburn University.

pdf 7-18-14_Clinical-Research-Network Popular

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TOW_7-18-14_Research-Review_Clinical-Research-Network.pdf

This issue of NTSAD's "Research Review" introduces the GM2 Clinical Research Network and its purpose moving forward.

pdf 4-25-14 Research Review Conference Research Update Popular

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TOW_4-25-2014_Research-Review_Conf-Review.pdf

pdf 5-23-14_Corporate-Advisory-Council Popular

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TOW_5-23-14_Corporate-Advisory-Council.pdf

pdf 7-18-14 Research Review - Clinical Research Network Popular

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7-18-14_Research-Review_ Clinical-Research-Network.pdf

pdf 6-6-14 Research Review - RI Grant Award Popular

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6-6-14_Research_Review_2014-Grant-Award.pdf

pdf 5 17 13 Research Review Orphan Disease Popular

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5-17-13_Research-Review_Orphan-Disease.pdf

NTSAD's orphan drug designation request for
a Tay-Sachs gene therapy treatment has been
granted by the U.S. Food and Drug Administration
(FDA).

pdf 3 15 13 Research Review TS Sheep Popular

443 downloads

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3-15-13_Research-Review-TS-Sheep.pdf

Tay-Sachs Sheep HOPE for a Cure
Doug Martin, PhD, Auburn University, received Research
Initiative Grants from NTSAD to characterize natural disease
progression in the Tay-Sachs sheep model and therapeutic
benefits of gene therapy in Tay-Sachs sheep.

pdf 4 2 13 Special Edition Research Review Popular

489 downloads

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4-2-13_Special-Edition_Research-Review.pdf

The Tay-Sachs GeneTherapy Consortium (TSGT) has been working
hard to unravel the mystery of an adverse neurological response in
non-affected primates during the pre-clinical studies.

pdf 1 17 13 Research Review NextGen Carrier Screen Technology Study Popular

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1-17-13_Research-Review_NextGen-Carrier-Screen-Technology-Study.pdf

This study is an important step toward a
testing method that detects all carriers
regardless of heritage without the technical
limitations of enzyme assay.

pdf 2 15 13 Research Review Canavan Disease Pathways Popular

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2-15-13_Research_Review_Canavan-Disease-Pathways.pdf

Maria Traka, PhD, Research Associate at the
University of Chicago, received a Research
Initiative Grant from NTSAD to develop an
in vitro (in the lab) approach to identify
molecular pathways of Canavan Disease

 

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