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Basics of Rare Diseases News, Research and Latest Updates

Keep abreast with the latest news related to Basics of Rare Diseases there are 112 news items on Basics of Rare Diseases that covers updates, breakthroughs and in-depth reports.

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Basics of Rare Diseases

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.

Free Testing and Counselling for Rare Diseases

Free Testing and Counselling for Rare Diseases

World Rare Disease Day: Improving the accessibility of genetic testing and counseling services for rare diseases will enable early detection and prompt intervention.

Rare Diseases Day: Rare is No More Rare

Rare Diseases Day: Rare is No More Rare

Join the global movement. Rare Disease Day, raises awareness, empowers communities, and drives research for those with rare conditions.

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.

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Poor Awareness of Rare Diseases in India: A Report

Poor Awareness of Rare Diseases in India: A Report

In India, it appears that a key obstacle to effectively combating rare diseases is lack of awareness and insufficient diagnosis.

FDA Boosts Orphan Drug Designations for Myelofibrosis Treatments

FDA Boosts Orphan Drug Designations for Myelofibrosis Treatments

The rise in FDA ODD awards indicates a collective endeavor to create new myelofibrosis medications devoid of mechanisms inducing anemia.

Doctors Shut Down Half of Girl's Brain to Halt Rare Disease

Doctors Shut Down Half of Girl's Brain to Halt Rare Disease

Doctors at Loma Linda University Health perform surgery to shut down half a girl's brain to stop Rasmussen’s encephalitis.

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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.

Rare Disease Day 2023: "Share Your Colors!"

Rare Disease Day 2023: "Share Your Colors!"

Rare Disease Day 2023, observed on February 28, is a worldwide healthcare event to raise awareness of rare diseases, their rarity profiles, and their prevention.

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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.

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Rare Disease Day: Living With a Rare Disease

Rare Disease Day: Living With a Rare Disease

February 28 is designated as Rare Disease Day to intensify research for treatment of rare diseases.

First Steps for a Rare Disease Policy in India

First Steps for a Rare Disease Policy in India

Globally, there are 7000 rare diseases and counting. In India, there are nearly 7 crore people affected by a rare disease.

Funds and Timely Treatment Crucial for Tackling Rare Diseases in India

Funds and Timely Treatment Crucial for Tackling Rare Diseases in India

Lysosomal Storage Disorders occur in about one in 5,000 live births. India currently has about 300-400 patients who have been diagnosed with treatable LSDs.

Blue Ribbon Art Exhibition and Film Festival - World Rare Diseases Day 2016

Blue Ribbon Art Exhibition and Film Festival - World Rare Diseases Day 2016

The last day of February each year is marked as World Rare Diseases Day (WRDD) in honor of all people living with rare diseases.

Paa' is a film in which Amitabh Bachchan, in a rare role reversal, plays son to Abhishek Bachchan, his real-life son!

Niemann-Pick Disease

Niemann-Pick Disease

Niemann-Pick disease Type A and B occur due to the deficiency of an enzyme called acid sphingomyelinase (ASM). Niemann-Pick disease does not have a complete cure

Genetic Testing of Diseases

Genetic Testing of Diseases

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

Test Your Knowledge on Rare Diseases

Test Your Knowledge on Rare Diseases

Rare or orphan diseases are the least understood of all the categories of chronic diseases. gene disorders. Almost 50% of those affected are children and 30% of these children will not live beyond the age of 5. It takes nearly 7 years to diagnose a ...