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2 articles from the last 7 days matching "genetic disease"

NewsRSS4 days ago

Test Your Knowledge About the Etiology of TK2d

This article invites people to take a quiz about TK2d, a rare genetic disease, to test their understanding of what causes it. After completing the quiz, you can see how your answers compare to other people who took it. It's a way to learn more about this disease and see how your knowledge stacks up.

WHY IT MATTERSUnderstanding the genetic basis of TK2d can help patients and caregivers better comprehend their diagnosis and engage more effectively in conversations with their healthcare providers about disease management.
ℹ Good to knowTK2 deficiencyRead →
ResearchBIORXIV6 days ago

Preprint: Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

Researchers analyzed blood samples from over 5,400 people with rare genetic diseases to see if a test called RNA-Seq could help find the genetic cause of their conditions. They found that this blood test works better for some diseases than others, and they used special computer programs to spot unusual gene activity patterns that might explain why people got sick. This study shows that blood tests could be a useful tool to help diagnose rare diseases alongside other genetic tests.

WHY IT MATTERSIf you have an undiagnosed rare disease, this research suggests blood-based RNA testing could help identify the genetic cause—potentially leading to a diagnosis after years of searching.
ℹ Good to knowRead →

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