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Fellowships Funded by the
National Niemann-Pick Disease Foundation

(To see a listing of the Research Grants funded by the CCNNPDF/NNPDF, click here.)

(To see a listing of the Clinical Research and Services funded by the CCNNPDF/NNPDF, click here.)

The Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) is a sister chapter to the National Niemann-Pick Disease Foundation (NNPDF) (U.S.) and receives administrative support from the NNPDF. Money raised through the CCNNPDF is invested in Niemann-Pick Disease research through the NNPDF's research program with guidance from the NNPDF's Scientific Advisory Board (SAB), Board of Directors, and Research Committee. This partnership helps eliminate redundancy and maximizes the impact of research dollars. (Tammy Vaughan, chair of the CCNNPDF, serves as secretary of the NNPDF, and is on the NNPDF's Research Committee.)


The research funded by the NNPDF is made possible in great part due to the efforts of our NPD families in both the U.S. and Canada, and their extended support network via local community-sponsored events. The NNPDF is truly grateful for this support.

Item #

 


Date


Researcher


Project

Additional
Information

17   01/2016 - 12/2018

Ofer Moldavski, PhD
(The Regents University of California, Albany, CA)

Peter G. Pentchev Research Fellowship*

New Perspective on Niemann-Pick type C Disease as an mTORC1 Dependent Metabolic Disease

In progress

Jan 2016 Project Summary

16 jiang xuntian 01/2016 - 12/2016

Xuntian Jiang, PhD
(Washington University; St. Louis, MO)

Peter G. Pentchev Research Fellowship*

Development of a diagnostic test and newborn screen for Niemann-Pick C disease

In progress

Jan 2016 Project Summary

15


 

Andrew Munkacsi

Extended:05/2015 -11/2015
(Year 3)

Andrew Munkacsi, Ph.D.
Sponsor: Stephen L. Sturley, Ph.D.
(Columbia University Medical Center;
New York, New York; USA ~ Year 1)

Victoria University of Wellington, New Zealand.

Peter G. Pentchev Research Bridge Funding

Defining the molecular basis of HDAC inhibitors to treat murine, feline, and human models of NPC

$20,000 yr 3 extension

Jointly sponsored by NNPDF and CCNNPDF

In progress

May 2015 Project Summary

14 a 10/2014 - 10/2016

Gizely Andrade
Sponsor: John Foxe, Ph.D.
(Albert Einstein College of Medicine; Bronx, NY)

Peter G. Pentchev Research Fellowship*

Developing Neurophysiological Outcome Measures for Treatment Assessment in Niemann-Pick type C (NPC) Disease.

Please find the published paper here.

In progress

2. April 2015 Project Summary

1. October 2014
Project Summary

13 jiang xuntian 10/2014 - 10/2015

Xuntian Jiang, PhD
(Washington University; St. Louis, MO)

Peter G. Pentchev Research Fellowship*

Development of a diagnostic test and newborn screen for Niemann-Pick C disease

Complete

2. April 2015 Project Summary

1. October 2014 Project Summary

12 KS 10/2014 - 10/2016

Kanagaraj Subramanian
Sponsor: William E. Balch
(The Scripps Research Institute; La Jolla, CA)

Peter G. Pentchev Research Fellowship*

Roadmap for Drug Development for Niemann-Pick Disease

In progress

2. April 2015 Project Summary

1. October 2014 Project Summary

11

Deepti Gadi

10/2012 - 10/2014

Deepti Gadi, Ph.D.
Sponsor: Frederick Maxfield, Ph.D.
(Weill College of Cornell University; New York, New York)


Peter G. Pentchev Research Fellowship*

Understanding the cellular mechanism of HDAC inhibitors for the treatment of NPC disease.

Complete

April 2014 FINAL Update

October 2013 Update

April 2013 Update

Project Summary Sept 2012

10

Stephanie Cologna
10/2012 - 10/2014

Stephanie M. Cologna, Ph.D.
Sponsor: Forbes D. Porter, Ph. D.
(National Institute of Health; Bethseda, Maryland)


Peter G. Pentchev Research Fellowship*

Differential Protein Expression Profiling in Cerebrospinal Fluid from Niemann-Pick Disease, type C1 Patients.

Completed

Published Article, Sept 3rd, 2015

October 2014 FINAL Report

April 2014 Update

October 2013 Update

April 2013 Update

Project Summary Sept 2012

9


Samaranch

10/2012 - 10/2014

Lluis Samaranch Gusi, Ph.D.
Sponsor: Krystof S. Bankiewicz, M.D., Ph. D.
(University of California; San Francisco, California; USA)


Edward H. Schuchman Fellowship*

AAV9-mediated human acid sphingomyelinase expression in nonhuman primate brain: Preclinical development of gene therapy for Niemann-Pick disease type A.

Completed

October 2014 FINAL Report

April 2014 Update

October 2013 Update

April 2013 Update

Project Summary Sept 2012

8


 

Andrew Munkacsi

9/2011 -
9/2012

(Year 1)

 

2/2013 -

2/2014

(Year 2)

Andrew Munkacsi, Ph.D.
Sponsor: Stephen L. Sturley, Ph.D.
(Columbia University Medical Center;
New York, New York; USA ~ Year 1)

Victoria University of Wellington, New Zealand.

Peter G. Pentchev Research Bridge Funding

Defining the molecular basis of HDAC inhibitors to treat murine, feline, and human models of NPC

$50,000 yr 1; $50,000 yr 2

Jointly sponsored by NNPDF and CCNNPDF

Completed ~ see extension

April 2014 Final Report

Aug 2013 - March 2014
Update

October 2012 Update

April 2012 Update

Project Summary Sept 2011

7





Maetzel
9/2010 -
9/2013
Dorothea Maetzel, Ph.D.
Sponsor: Rudolf Jaenisch, M.D.
(Whitehead Institute for Biomedical Research; Cambridge, Massachusetts; USA)

In Vitro modelling of Niemann-Pick type C Disease Using Patient-Specific Induced Pluripotent Stem Cells

$100,000
Jointly sponsored by NNPDF and CCNNPDF

Received third year extension of additional $50,000

Completed

Final Lay Summary Report

March - August 2012 Update

April 2012 Update

Oct 2011 Update

April 2011 Update

Project Summary Sept 2010

6
9/2010 -
9/2013
Nicholas Cianciola, Ph.D.
Sponsor: Cathleen Carlin, Ph.D.
(School of Medicine, Case Western Reserve University; Cleveland, Ohio; USA)

Activation of an alternative cholesterol homeostatic mechanism in NPC

$100,000
Jointly sponsored by NNPDF and CCNNPDF

Received third year extension of additional $50,000

Completed

Final Lay Summary

April 2013 Update

Oct 2012 Update

April 2012 Update

Oct 2011 Update

April 2011 Update

Project Summary Sept 2010

5



Fabrizio Vacca
4/2010 -
4/2012
Fabrizio Vacca, Ph.D.
Sponsor: Professor Jean Gruenberg
(University of Geneva, Switzerland)
Analysis of cholesterol export from purified endosomes in NPC cellular models

$100,000
Jointly sponsored by NNPDF and CCNPDF
                   
Completed

Final Lay Summary Report
June 2012

Oct 2011 Update

April 2011
Update


Project Summary Sept 2010

4
Ian Williams
9/2009 - 9/2011 Ian Williams, Ph.D.
Sponsor: Professor Fran Platt
(University of Oxford, UK)

Neurobiology of Purkinje Cells in NPC1

$100,000
Jointly sponsored by NNPDF and CCNNPDF
 
Completed

Oct 2011 Update

April 2011 Update

Project Summary Sept 2010

3

 

9/15/2004 - 9/14/2006

Nobutaka Ohgami, Ph.D.
Sponsor: T. Y. Chang, Ph.D.
(Dartmouth Medical School; Hanover, New Hampshire; USA)
(2)

Demonstration of NPC1 as a lipid binding protein in Vitro

$80,500

contract modified Jan 2006 to end 31/12/2007

Completed

More Details...

2

 

3/15/2003 - 3/14/2005

Heng-Ling Liou, Ph.D.
Sponsor: Peter Lobel, Ph.D.
(University of Medicine & Dentistry of New Jersey -Robert Wood Johnson Medical School; Piscataway, New Jersey, USA)
(2 years)

The Role of NPC2 (Niemann-Pick Disease Type C2) Protein in Lysosomal Cholesterol Trafficking

$80,500

Completed

More Details...

1

 

3/15/2003 - 3/14/2005

Amit Kumar Choudhury, Ph.D.
Sponsor: Richard E. Pagano, Ph.D.
(Mayo Clinic and Foundation; Rochester, Minnesota, USA)
(2 years)

Reduction of Lipid Accumulation in Niemann-Pick Fibroblasts by Modulation of Membrane Trafficking

$80,500

Completed

More Details...

 

“The Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. This site is an educational service of the Canadian Chapter of the National Niemann-Pick Disease Foundation and is not meant to provide diagnostic or treatment advice. Information contained or suggested on this Web site does not constitute medical advice. For all information related to care, medication or treatment, the CCNNPDF recommends consulting a physician to determine if information presented is applicable. Please review these additional cautions about medical information provided on the Internet.”