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Niemann-Pick Disease

 

Niemann-Pick Disease (NP) refers to a group of rare inherited lipid storage diseases in which harmful quantities of fatty substances (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain.

Niemann-Pick, Type C (NP-C) is one of these genetic diseases and can occur in any community. It causes abnormal accumulation of cholesterol in cells of the body. Symptoms of NP-C include deterioration of memory and balance, seizures, lung and liver failure. The disease usually appears in early childhood. Currently, there is no cure, but supportive therapies are available and research is advancing.

The Ara Parseghian Medical Research Foundation supports research at the University of Notre Dame, which is seeking new understanding and treatments for NP-C disease. To read about the Notre Dame - Parseghian Partnership, visit the Notre Dame Science Niemann-Pick Type C Research pages.

The Center for Rare and Neglected Diseases is participating in the NIH's NP-C Natural History Study in collaboration with Dr. F.D. Porter and Nicole Yanjanin, M.S.N. through the successive BIOS courses led by Professor Kasturi Haldar. These classes are contributing to the development of a clinical score for NP-C. The Clinical Severity Scale helps clinicians and researchers quantify disease progression, correlate potential biomarkers with disease status, and provide long-term outcome measures to evaluate therapeutic efficacy. A paper on this unique course was authored by the students and course instructors was published in 2011 by the prestigious open access journal, PLoS One. Link to: PL0S One and the CRND course article, 'Defining Natural History...'

To read more about the extraordinary honor roll of distinguished lecturers who have visted the CRND to speak with classes and lecture in the Clinical Translational Seminar Series on rare diseases, please visit our Series Announcement and CTSS Photohistory pages.

 

 

Family & Community Resources

Foundations & Organizations
 
NNPDF is the largest Niemann-Pick family support organization in the world and brings together parents, medical professionals, researchers, educators and friends to fight NP diseases, including types A, B, C. Its newsletter reaches 6,000 households and its website is updated regularly with scientific and community news. NNPDF hosts a Family Conference, which allows leading scientists to exchange information with families. It also publishes a directory of families with NP-C affected members. A Coordinator of Education, Referrals and Advocacy is available to assist families across the nation with medical issues. NNPDF has sponsored $5 million in research.
 

APMRF is a volunteer organization dedicated to medical research in NP diseases and family support. APMRF's extensive network has a broad reach through its prominent boards, including a Scientific Advisory Board comprised of internationally recognized geneticists, molecular biologists, neurologists and pathologists. APMRF is a leading fund raiser ( $33 million in fourteen years). Many NP-C families, corporations and Notre Dame alumni contribute to APMRF's research initiatives. APMRF sponsors a key Scientific Conference at Notre Dame and maintains a website, newsletter and collection of video resource links.

 
 

Video Media

 
Dr. Patterson is a pediatric neurologist and works with a number of NP patients at Mayo Clinic where he is the Chair of the Division of Child and Adolescent Neurology, a Professor of Neurology, Pediatrics and Medical Genetics, and the Director of the Child Neurology Training Program. Dr. Patterson is on the scientific board of NNPDF and has lectured at the CRND's Clinical Translational Seminar Series.
 
Filmed at the University of Notre Dame by Liz Hodge (Foundation for Biomedical Research, right), SurvivorTales: Niemann-Pick Type C tells the story of two children suffering from a rare and fatal genetic disease and research that could save their lives. It stars the Smith Family, Drs. Kasturi Haldar and Cindy Parseghian. This show won a Telly Award in 2011. (If the video below does not play, consider updating your media player).

Online Publications

 

Link to: PL0S One and CRND Article, 'Defining Natural History...'

  A 32-page summary of NP and NP-C was authored by J.E. Wraith and J. Imrie and published by Blackwell Publishing (2007).
 
     

 

To Read About Niemann-Pick (NP) & Niemann-Pick Type C (NPC)

In 2007, a 32-page summary of NP and NP-C was authored by J.E. Wraith and J. Imrie and published by Blackwell Publishing. The publication was made available by a grant from Actelion Pharmaceuticals LTD and is re-posted from the Niemann Pick Disease Group (UK) website: Understanding Niemann-Pick disease type C and its potential treatment.

NINDS Niemann-Pick Disease Information Page (National Institute of Neurological Disorders and Stroke)

Niemann-Pick Disease(Genetics Home Reference - A Service of the National Library of Medicine

About Niemann-Pick Type C: Cause, Diagnosis, Symptoms and Treatment (Ara Parseghian Medical Research Foundation)

 

 

Of Interest...