Tag: RARECast

A total of 85 posts are filed under RARECast
RARECast: A Quest for Tribe: Searching for Others with the Same Ultra-Rare Mutation
When Milo Lorentzen was born, concerns over his condition sent him to a neonatal intensive care unit where he spent the first ten days of… Continue Reading
RARECast: Raising Awareness in a Town with a History of a Rare Disease
Edgar Kline Jr.’s family can trace its involvement with a rare genetic disease back to the 1700s. In fact, Hagerstown, Maryland, where his… Continue Reading
RARECast: Helping Rare Disease Patients Navigate the World of Information
    The Internet has opened up a world of information to rare disease patients, but it can often be hard to access, understand, or… Continue Reading
RARECast: Overcoming the Challenges of Rare Disease Drug Development
The translation of a drug from discovery to development faces a number of obstacles, but these can be amplified for rare disease therapies… Continue Reading
RARECast: Moving Rare Disease Therapies from Hope to Reality
World Rare Disease Day, an annual international effort to create awareness for rare diseases, will take place on February 28th. This year,… Continue Reading
RARECast: Helping Patients with the Same Undiagnosed Genetic Condition Find Each Other
For rare disease patients and their families, genome and exome sequencing can identify mutations that may be drivers of a condition, but… Continue Reading
RARECast: An Entrepreneur Uses a Silicon Valley Approach to Tackle Rare Disease
When Matt Wilsey’s daughter, Grace, was diagnosed with the ultra rare disease NGLY1 deficiency, he traveled the world to get a diverse… Continue Reading