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Scientific Advisory Board

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 Scientific Advisory Board (SAB) gives guidance to the NNPDF's Board of Directors in determining policies and funding decisions related to research. SAB members evaluate grant and fellowship funding applications to determine where research funds may best be applied as we look to accelerate the pace toward effective treatments and a cure for all types of Niemann-Pick Disease.

Members of the SAB also attend the annual NNPDF Family Support and Medical Conference to give presentations and update families on the latest research developments.  They also give generously of their time to talk with families and answer questions families may have relating to clinical and research matters.

The commitment and guidance of the SAB has been critical to our success thus far, and we greatly appreciate all their hard work on behalf of families affected by NPD. 

Specialties of SAB members are wide-ranging and include pediatric neurology, genetics, physiology, human nutrition, metabolism and cholesterol trafficking, molecular and cell biology, biochemistry, etc. (To learn more about the work of individual SAB members, visit the links below the photos.)

We are indebted to all of the members of our SAB who so generously offer their time and expertise on a volunteer basis, without remuneration. 

Thank you, SAB!

 

L

Andrew Lieberman, M.D., Ph.D., Chair

Gerald D. Abrams Collegiate Professor of Pathology
Director of Neuropathology
University of Michigan Medical School

liebermn@umich.edu
Andrew Lieberman, M.D., Ph. D. Web page

Peter G Pentchev Ph D

Peter Pentchev, Ph.D.

Emeritus Scientist

West Lafayette, IN
peter.pentchev@xtra.co.nz

 
Dr. Pentchev Honored
at Family Conference

Jean Vance

Jean Vance, Ph.D

Professor, Division of Endocrinology

University of Alberta

jean.vance@ualberta.ca
Jean E. Vance, Ph.D. Web page

O

Daniel S. Ory, M.D.

Professor of Medicine

Cell Biology and Physiology

Washington University School of Medicine

dory@.wustl.edu

Daniel S. Ory, M.D. Web page

P

Fran Platt, Ph.D.
Professor, Biochemistry and Pharmacology
University of Oxford
frances.platt@pharm.ox.ac.uk
Fran Platt, Ph.D. Web page

Marie Vanier

Marie Vanier, M.D., Ph.D.

Research Director, INSERM

(French National Inst. of Health & Medical Research)

marie-t.vanier@inserm.fr
INSERM Web site

P

Marc C. Patterson, M.D., FRACP Chair, Division of Child and Adolescent Neurology; Professor of Neurology, Pediatrics & Medical Genetics; Director, Child Neurology Training Program; Mayo Clinic Children's Center; Mayo Clinic, Minnesota

patterson.marc@mayo.edu

Marc Patterson, M.D. Web page

 

  D
Forbes "Denny" Porter, M.D., Ph.D.
Senior Investigator, Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics
Natl. Institute of Child Health & Human Development
Natl. Institutes of Health
fdporter@mail.nih.gov      
NICHHD Intramural Research Web page

Dr. Steven U. Walkley

Steven U. Walkley, D.V.M., Ph.D.
Professor, Department of Neuroscience

Albert Einstein College of Medicine

steve.walkley@einstein.yu.edu

Steven U. Walkley,DVM, Ph.D. Web page

g

Laura Liscum, Ph.D.

Professor of Physiology

Tufts University School of Medicine

laura.liscum@tufts.edu

Laura Liscum, Ph.D. Web page

 

Photo of Edward H. Schuchman

Edward H. Schuchman, Ph.D.
Genetic Disease Foundation-Francis Crick Professor
Vice Chairman for Research
Professor of Gene and Cell Medicine
Mount Sinai School of Medicine
edward.schuchman@mssm.edu
Edward H. Schuchman, Ph.D. Web page

Andrea Ballabio

Andrea Ballabio, M.D.
Scientific Director
TIGEM, Telethon Institute of Genetics and Medicine
ballabio@tigem.it
Andrea Ballabio, M.D. Web page

Stephen L. Sturley, Ph.D.

Stephen Sturley, Ph.D.

Associate Professor of Clinical Nutrition

Institute of Human Nutrition

Columbia University

sls37@columbia.edu
Stephen Sturley, Ph.D. Web page

 

 

Heiko Runz

Heiko Runz, M.D.
Specialist in Medical Genetics
University of Heidelberg, Germany
heiko.runz@med.uni-heidelberg.de
Heiko Runz, M.D. Web page

 

Jean

Jean Gruenberg, Ph.D
Professor of Biochemistry
University of Geneva - Sciences II
jean.gruenberg@unige.ch
Jean Gruenberg, Ph.D Web page


.

Lola

Lola Ledesma, Ph.D
Centro Biologia Molecular Severo Ochoa, Madrid, Spain
dledesma@cbm.uam.es
Lola Ledesma, Ph.D Wb page

 


 

 



Esteemed Former SAB Members -- Thank you for your dedicated service!

Dr. Robert J. Desnick

Robert J. Desnick, M.D., Ph.D.

Professor, Department of Human Genetics

Mount Sinai School of Medicine

robert.desnick@mssm.edu

Robert J. Desnick, M.D., Ph. D. Web page

Yiannis Ioannou, Ph.D.

Yiannis A. Ioannou, Ph.D.

Associate Professor, Genetics & Genomic Science

Mount Sinai School of Medicine

yiannis.ioannou@mssm.edu

Yiannis A. Ioannou, Ph. D. Web page

 

[Feb 25, 2014 ~ blg]