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.
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 ...
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, ...
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 Exec9d
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 ...
pharmaphorum3d
Rare Disease R&D: one step forward, but a long road ahead
with this journey often taking years. During this wait, people living with rare diseases are faced with the difficulty of living with a condition without the correct treatment. Once diagnosed ...
Adelaide Now12d
Father’s journey to support son with rare condition
With significant community support, Mr Place is aiming to gather vital resources not only for Will, but for other children affected by the same rare disease.