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Harlequin Ichthyosis News, Research and Latest Updates

Keep abreast with the latest news related to Harlequin Ichthyosis there are 50 news items on Harlequin Ichthyosis that covers updates, breakthroughs and in-depth reports.

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Harlequin Ichthyosis

Harlequin ichthyosis or ichthyosis congenita is a genetic disorder that results in a thick, dry and scaly skin with fissures and is often fatal.

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

Ichthyosis - Causes, Symptoms, Diagnosis, Treatment, Complication, Risks

Ichthyosis - Causes, Symptoms, Diagnosis, Treatment, Complication, Risks

Ichthyosis is a skin condition that is usually inherited. Find out how the condition can be treated and if there is any way to get relief from the symptoms.

About Genetic Testing

About Genetic Testing

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