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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!



Dan Ory, M.D.

Daniel S. Ory, M.D., Chair

Professor of Medicine

Cell Biology and Physiology

Washington University School of Medicine

[email protected]

Daniel S. Ory, M.D. Web page


Peter Pentchev, Ph.D.

Emeritus Scientist

West Lafayette, IN
[email protected]


Dr. Pentchev Honored
at Family Conference


Jean Vance

Jean Vance, Ph.D

Professor, Division of Endocrinology

University of Alberta

[email protected]
Jean E. Vance, Ph.D. Web page



Yiannis Ioannou, Ph.D.

Yiannis A. Ioannou, Ph.D.

Associate Professor, Genetics & Genomic Science

Mount Sinai School of Medicine

[email protected]

Yiannis A. Ioannou, Ph. D. Web page

Fran Platt, Ph.D.
Professor, Biochemistry and Pharmacology
University of Oxford
[email protected]
Fran Platt, Ph.D. Web page

Marie Vanier

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

Research Director, INSERM

(French National Inst. of Health & Medical Research)

[email protected]
INSERM Web site

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

Associate Professor and Director, Neuropathology

University of Michigan Health System

[email protected]
Andrew Lieberman, M.D., Ph. D. Web page



Denny Porter
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
[email protected]
NICHHD Intramural Research Web page

Steven Walkley, D.V.M., Ph.D.

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

Albert Einstein College of Medicine

[email protected]

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

Laura Liscum, Ph.D.

Laura Liscum, Ph.D.

Professor of Physiology

Tufts University School of Medicine

[email protected]

Laura Liscum, Ph.D. Web page



Physician Photo

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
[email protected]
Edward H. Schuchman, Ph.D. Web page

Andrea Ballabio, M.D.
Scientific Director
TIGEM, Telethon Institute of Genetics and Medicine
[email protected]
Andrea Ballabio, M.D. Web page

Marc Patterson, M.D.

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

[email protected]

Marc Patterson, M.D. Web page

Stephen Sturley, Ph.D.

Associate Professor of Clinical Nutrition

Institute of Human Nutrition

Columbia University

[email protected]
Stephen Sturley, Ph.D. Web page


Jean Gruenberg

Jean Gruenberg, Ph.D
Professor of Biochemistry
University of Geneva - Sciences II
[email protected]
Jean Gruenberg, Ph.D Web page.

Lola Ledesma, Ph.D
Centro Biologia Molecular Severo Ochoa, Madrid, Spain
[email protected]
Lola Ledesma, Ph.D Wb page

Heiko Runz

Heiko Runz, M.D.
Specialist in Medical Genetics
Univerty of Heidelberg, Germany
[email protected]
Heiko Runz, M.D. Web page



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

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

Professor, Department of Human Genetics

Mount Sinai School of Medicine

[email protected]

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

[Apr 10, 2013 blg]