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Porphyria News, Research and Latest Updates

Keep abreast with the latest news related to Porphyria there are 43 news items on Porphyria that covers updates, breakthroughs and in-depth reports.

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Porphyria

Porphyria or vampire disease or is a group of inherited diseases that cause symptoms of the nervous system and/or skin. Treatment depends on the type of porphyria.

Blood Test Discovers Fetal Genetic Disorders

Blood Test Discovers Fetal Genetic Disorders

In the future, a straightforward blood test could enable the screening of pregnant women for severe genetic diseases in their unborn children.

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.

Whole Genome Sequencing Takes the Lead in Unraveling Genetic Disorders

Whole Genome Sequencing Takes the Lead in Unraveling Genetic Disorders

Whole genome sequencing (WGS) outperforms targeted gene sequencing tests in identifying genetic disorders in newborns and infants.

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How Genomic Variants Could Help Diagnose Rare Genetic Disorders

How Genomic Variants Could Help Diagnose Rare Genetic Disorders

A genotype-first approach to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms.

Kids with Rare Genetic Disorders More Likely to Suffer Other Mental Health Problems

Kids with Rare Genetic Disorders More Likely to Suffer Other Mental Health Problems

Are genetic disorders linked to developmental, behavioral and mental health problems? Routine genomic testing may hold the answer.

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.

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Links to Genetic Disorders in Walking Patterns Identified

Links to Genetic Disorders in Walking Patterns Identified

By examining the microscopic movements of those wearing motion-sensored sneakers, scientists have associated the genetic disorders Fragile X and SHANK3 deletion syndrome with walking patterns.

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.

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.

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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.

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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