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.
News on 636m
Documentary explores frontotemporal dementia and its impact on family
The documentary "Susan" follows a woman living with frontotemporal dementia and her advocacy for others with the disease, ...
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 ...
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 ...
Pharm Exec10d
Casey McPherson Shares His Journey With Rare Drug Development and Chrysalis Genetics
In this Pharmaceutical Executive interview, McPherson talks about his journey toward developing a therapeutic for his daughter, as well as changing the overall landscape of therapeutic research for ...
Science Daily3d
Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses
"Rare diseases are something that people have been ... multiple clinical visits and transforming a years-long diagnostic journey into a matter of hours." On average, each patient had 280 genes ...
pharmaphorum4d
On a journey to diverse, inclusive, and more efficient rare disease trials
It’s going to be a long, potentially bumpy journey, but more efficient rare disease trials are getting closer to reality every day. Join the conversation, on Tuesday 28th January @ 10 am ET - 3 ...
News Medical3d
Long-read sequencing revolutionizes diagnosis of rare diseases
"Rare diseases are something that people have been ... multiple clinical visits and transforming a years-long diagnostic journey into a matter of hours." On average, each patient had 280 genes ...
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, ...
pharmaphorum5d
Empowering rare disease patient advocacy organisations with data
Rare diseases are challenging to identify ... diseases by giving them a bigger picture of a rare disease patient’s journey. The benefits of accessibility Data collection within the healthcare ...