Niemann-Pick-Disease-Information-Page

Niemann-Pick Disease Information Page


What research is being done?

Investigators at the National Institute of Neurological Disorders and Stroke (NINDS) have identified two different genes that, when defective, contribute to Niemann-Pick disease type C. NINDS scientists are studying the mechanisms by which lipids accumulating in these storage diseases causes harm to the body. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) that can be used to evaluate therapies for lipid storage disorders. Scientists are testing a compound to see if it can be used to screen enwborms for Niemann-Pick type C disease.

Information from the National Library of Medicine’s MedlinePlus
Genetic Brain Disorders

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What research is being done?

Investigators at the National Institute of Neurological Disorders and Stroke (NINDS) have identified two different genes that, when defective, contribute to Niemann-Pick disease type C. NINDS scientists are studying the mechanisms by which lipids accumulating in these storage diseases causes harm to the body. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) that can be used to evaluate therapies for lipid storage disorders. Scientists are testing a compound to see if it can be used to screen enwborms for Niemann-Pick type C disease.

Information from the National Library of Medicine’s MedlinePlus
Genetic Brain Disorders

Investigators at the National Institute of Neurological Disorders and Stroke (NINDS) have identified two different genes that, when defective, contribute to Niemann-Pick disease type C. NINDS scientists are studying the mechanisms by which lipids accumulating in these storage diseases causes harm to the body. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) that can be used to evaluate therapies for lipid storage disorders. Scientists are testing a compound to see if it can be used to screen enwborms for Niemann-Pick type C disease.

Information from the National Library of Medicine’s MedlinePlus
Genetic Brain Disorders


Definition
Definition
Treatment
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