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noun
/ leu·ko·dys·tro·phy
(lōō'kō-dĭs'trə-fē)
leuko (white), dys
(lack of) and troph (growth)
:
a group of genetic disorders characterized by
progressive degeneration of myelin (white
matter) in the brain, spinal cord, and
peripheral nerves.
:
approximately 40 leukodystrophies including Canavan disease,
adrenoleukodystrophy, Alexander's disease,
Krabbe disease, metachromatic
leukodystrophy, Sjogren-Larssen, and Zellweger
syndrome. |
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What is Canavan Disease?
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Canavan was recently featured as NORD's
Rare Disease of the
Day |
Canavan is a progressive
neurological genetic disorder
caused by the absence of a
vital enzyme known as aspartoacylase (ASPA).
ASPA breaks N-acetylaspartate acid (NAA) into
building blocks essential for building myelin.
Myelin is a fatty membrane (also known as white
matter) that forms a protective coating around
each nerve ensuring the nerve functions
properly. It is one of over 40 genetically inherited
disorders known as Leukodystrophies. |
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What's
Happening with Canavan Research?
NTSAD
has funded over $250,000 in grants focused on
Canavan disease over the last several years.
They ranged from basic research, small
molecules, gene therapy to clinical trial
readiness.
Read
about Dr. Guangping Gao's gene therapy work at
the University of Massachusetts Medical Center
in Worcester, MA.
- NTSAD
Grant - Final Report here.
There
are currently two NTSAD-funded projects focused
on the natural history of Canavan disease. It is
imperative to understand the progression of the
disease to learn how to best measure the success
of any clinical trial/treatment.
- Defining
the Natural History of Canavan Disease through
Development of an International
Registry, Principal Investigator:
Heather Lau, MD and Co-Investigator: Paola
Leone, PhD (Co-funded with The
Canavan Foundation)
- Million
Dollar Bike Ride Grant to Study Natural History
of Canavan Disease, Principal Investigator:
Dr. Annette Bley, University Hospital of Hamburg
Eppendorf, Germany
Read more here about Dr.
Adeline Vanderver work with the Global
Leukodystrophy Initiative (GLIA) and
Dr. Florian Eichler's experience using the
NeuroBANK for the ALD registry. They both
presented at the NTSAD
Science Symposium & Workshop for
Professionals held in Reston, Virginia in April
2015. |
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| Annual
Meeting - Oct. 1-3,
2015 |
NTSAD Executive Director, Sue Kahn,
was invited to talk about NTSAD and how NTSAD
would like to collaborate with other Canavan and
leukodystrophy organizations around the issues
of understanding what's important to patients,
better understanding disease,
etc. |
Too many children
in the Canavan community
gone too soon in
the last year. Support Research
here. |
NTSAD
Scientific Advisory
Committee
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Fran Platt, PhD
(Chair)
Jodi Hoffman, MD (Vice chair)
Miriam Blitzer, PhD
Robert Desnick, PhD, MD
Florian Eichler, MD
Mark Haskins, VMD, MS, PhD
Michael Kaback, MD, FACMG
Edwin Kolodny, MD
Heather Lau, MD
Paola Leone, PhD
|
Heather
Lau, MD
Paola
Leone, PhDGustavo Maegawa, MD,
PhD
Marvin
Natowicz, MD, PhD
Swati
Sathe, MD, MS
Thomas
Seyfried, PhD
Barbara
Shapiro, MD, PhD
Evan
Snyder, MD, PhD
Cynthia
Tifft, MD, PhD, FACMG
Steven
Walkley, DVM, PhD
Michael
Watson, PhD,
FACMG
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NTSAD Corporate
Advisory Council
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Marion
Howard, MD, PhD (Chair)
Oved
Amitay
Ritu
Baral
Michael
Gladstone |
Kate
Haviland
Joan
Keutzer, PhD
Greg
Licholai,
MD
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Pre-Application
Deadline:
September
14th |
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One
$43,000 pilot grant is available focusing on
forms of Tay-Sachs, Sandhoff, GM-1, or Canavan
disease. Seeking proposals for innovative
research projects that involve basic research,
translational studies or clinical studies
relevant to the diseases mentioned
above.
This
grant is made possible by Team NTSAD, the
National Tay-Sachs & Allied Diseases
Association, and the Orphan Disease Center at
PennMedicine.
Pre-application
deadline is September 14th. Apply
here. |
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2015 Fifth Annual Day of
Hope
Rally
& Raise Hope about
Tay-Sachs,
GM1, Canavan, Sandhoff and related genetic
diseases!
Visit this page to see if an event is
happening near you. All proceeds benefit RESEARCH to give HOPE to our rare disease
community worldwide.
Hope
Knows No
Boundaries!
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Are
you on Facebook and
Twitter?
patient advocacy, and
more. | |
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