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Niemann-Pick Disease News, Research and Latest Updates

Keep abreast with the latest news related to Niemann-Pick Disease there are 49 news items on Niemann-Pick Disease that covers updates, breakthroughs and in-depth reports.

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Niemann-Pick Disease

Niemann–Pick disease is a group of inherited metabolic disorders in which cholesterol and lipids accumulate in lysosomes, leading to organ damage.

Histone Deacetylase Inhibitors for Treatment of Niemann-Pick Disease Type C

Histone Deacetylase Inhibitors for Treatment of Niemann-Pick Disease Type C

A drug used to treat cancer is found to be effective against Niemann-Pick disease, a rare neurodegenerative disease that affects children.

Program of Excellence for Rare Genetic Disorder Affecting Kids

Program of Excellence for Rare Genetic Disorder Affecting Kids

University of Pennsylvania has established a Program of Excellence to develop treatments for children with CDKL5, a rare X-chromosome-linked genetic disorder.

60 Genetic Disorders Affect Skin, Nervous System Problems

60 Genetic Disorders Affect Skin, Nervous System Problems

Genetic disorders may be inherited or develop from spontaneous mutations. Although treatments are improving, there are no cures for neurocutaneous disorders.

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13-Year-Old Teen With Rare Genetic Disorder Dies After Waiting For Multi-Organ Transplant

13-Year-Old Teen With Rare Genetic Disorder Dies After Waiting For Multi-Organ Transplant

The teen suffered from a disease that pushed him to the need for multi-organ transplant, where he required pancreas, intestine, small bowel, kidneys and liver.

Learning Disabilities Due to Genetic Disorder Reversed by Statins

Learning Disabilities Due to Genetic Disorder Reversed by Statins

Learning deficits caused by a mutation linked to a common genetic cause of learning disabilities could be reversed with statins, a popular class of cholesterol drugs.

Rare Genetic Disorders Diagnosis Aided by Computer, from Family Snaps

Rare Genetic Disorders Diagnosis Aided by Computer, from Family Snaps

Computer analysis of family photographs could help doctors diagnose the condition of a child with a rare genetic disorder, say Oxford University researchers.

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Scientists Discover Genetic Disorder Causing Strokes and Vascular Inflammation in Children

Scientists Discover Genetic Disorder Causing Strokes and Vascular Inflammation in Children

Inherited mutations in a blood enzyme called ADA2 that cause a syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood have been discovered by scientists.

Genetic Disorder Causing Strokes and Vascular Inflammation in Children Discovered

Genetic Disorder Causing Strokes and Vascular Inflammation in Children Discovered

Gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes that begin early in Childhood have been discovered by researchers of National Institute of Health.

Device can Help People Blinded Due to Genetic Disorders Recognize Common Objects

Device can Help People Blinded Due to Genetic Disorders Recognize Common Objects

People who have lost their vision due to a genetic disease can now be able to recognize common objects thanks to a new device.

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Woman Who Suffered from Rare Genetic Disorder Passes Away

Woman Who Suffered from Rare Genetic Disorder Passes Away

A 20-year old woman who suffered from a rare genetic disorder died last week.

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Recommended Reading

About Genetic Testing

About Genetic Testing

Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques

Basics of Rare Diseases - Types, Diagnosis and Treatment

Basics of Rare Diseases - Types, Diagnosis and Treatment

Rare or orphan diseases are least understood of all chronic diseases. They are more common than projected and kill more people than cancer and HIV together.

Inborn Errors of Metabolism - Causes, Types, Symptoms, Diagnosis & Treatment

Inborn Errors of Metabolism - Causes, Types, Symptoms, Diagnosis & Treatment

Inborn errors of metabolism are genetic disorders that hamper the body’s metabolism resulting in severe clinical manifestations.

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