Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...
GEN5d
Genetic Reanalysis Provides New Rare Disease Diagnoses
Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...
News Medical3d
Long-read sequencing revolutionizes diagnosis of rare diseases
Paten and Miga's labs partnered with clinicians to work on the cases of 42 patients with rare diseases - some of whom received a diagnosis via short-read methods or other specialized testing ...
How One Woman’s Journey with a Rare Disease Motivated Her to Advocate for Herself and Others
Managing the unpredictable symptoms of indolent systemic mastocytosis prompted a search for answers and community.
Over 500 patients receive diagnosis through genetic reanalysis
European consortium for Solving the Unsolved Rare Diseases demonstrates the significance of international collaboration to ...
What Is Piriformis Syndrome? All About Andie MacDowell's 'Rare' Diagnosis
Piriformis syndrome is a rare neuromuscular condition that happens when the piriformis muscle in the butt presses on the ...
Armed robbery in Revesby2d
Ontario Secures Deal for Rare Disease Drugs
Today, the Governments of Canada and the province of Ontario signed the National Strategy for Drugs for Rare Disease (DRD) agreement to invest over ...
Mothership.sg2d
S'pore woman, 41, who just gave birth, in ICU with rare liver disease, seeking donor
It was the day she gave birth to a son. Yet a Singaporean woman, surnamed Ho, 41, couldn't celebrate the occasion on Jan. 20 ...
Man 'saved' by ChatGPT's diagnosis of rare kidney disease, shares his story
A man claims that the AI chatbot ChatGPT correctly diagnosed his condition of severe Rhabdomyolysis, prompting him to seek ...
The rare fight: How a tiny spot on Ben Murray’s nose revealed an extraordinary diagnosis
A pea-sized spot on Ben Murray's nose unraveled a rare sweat gland cancer diagnosis. While he dismissed the spot as harmless, ...
Symptoms of Bruce Willis' rare dementia after star's outing amid LA wildfires
The Die Hard star was spotted shaking hands with an emergency serviceman in a heartfelt moment that his wife, Emma Hemming ...
Science Daily3d
Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses
Paten and Miga's labs partnered with clinicians to work on the cases of 42 patients with rare diseases -- some of whom received a diagnosis via short-read methods or other specialized testing ...