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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.

PARMESAN: New AI Tool Revolutionizing Genetic Disorder Treatments

PARMESAN: New AI Tool Revolutionizing Genetic Disorder Treatments

PARMESAN, the natural language processing tool accelerates research, boosting drug discovery and development for scientists.

Repurposed Amyotrophic Lateral Sclerosis (ALS) Drug Against Rare Genetic Disorder

Repurposed Amyotrophic Lateral Sclerosis (ALS) Drug Against Rare Genetic Disorder

Repurposed ALS (amyotrophic lateral sclerosis) drug may help slow down a rare genetic disorder in children and adolescents.

New Genetic Disorder Affects Brain and Craniofacial Skeleton

New Genetic Disorder Affects Brain and Craniofacial Skeleton

Researchers at the National Institutes of Health have discovered a new genetic disorder characterized by developmental delays and malformations of the brain, heart and facial features.

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FDA Approves the First Drug to Treat an Rare Genetic Disorder Which Causes Kidney Stones

FDA Approves the First Drug to Treat an Rare Genetic Disorder Which Causes Kidney Stones

FDA has approved lumasiran subcutaneous injection to treat adults and children with primary hyperoxaluria type 1 (PH1)- an ultra- rare genetic disorder.

New Treatment Benefits Patients With Rare Genetic Disorder

New Treatment Benefits Patients With Rare Genetic Disorder

In patients with rare genetic disorder, existing drugs were found to improve neurological function, revealed new study.

Milk or No Milk for Babies With a Rare Type of Genetic Disorder

Milk or No Milk for Babies With a Rare Type of Genetic Disorder

The study found that children with Duarte galactosemia are at no greater risk of long-term developmental abnormalities than their unaffected siblings, with exposure to milk as infants.

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Common Genetic Disorder Puts Elderly At Risk of Various Long-Term Diseases

Common Genetic Disorder Puts Elderly At Risk of Various Long-Term Diseases

Older individuals could be at higher risk of liver disease, arthritis, and frailty, if they have a genetic disorder called hemochromatosis, finds a new study.

New Genetic Disorder Identified In 19-month-old Baby Girl in Michigan

New Genetic Disorder Identified In 19-month-old Baby Girl in Michigan

A genetic disorder which was previously found in animals has now affected a human being. This disorder was caused by mutations in a ornithine decarboxylase 1 (ODC1) gene.

New Drug may Help Infants With Genetic Disorder Gain Motor Function

New Drug may Help Infants With Genetic Disorder Gain Motor Function

Nusinersen treatment could be effective for both infants and children with spinal muscular atrophy (a genetic disease which disables major movements) finds a new study.

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Rare Genetic Disorder Associated With Abnormal Levels of Spermine

Rare Genetic Disorder Associated With Abnormal Levels of Spermine

Elevated spermine levels in the brain correlates with the presence of mucopolysaccharidoses.

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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.