To celebrate Undiagnosed Children’s Awareness Day 2014, Friday 25th April, the Rare Genomics Institute has published a comprehensive 150 page guide to all aspects of rare diseases.
The book contains everything from a breakdown of many of the rare diseases associeted with genetic defects, interviews with leaders in the field of orphan drug and rare disease research, and patient stories.
Our hope is that this free and valuable resource reaches as many people as possible – to encourage and educate these families in the fight against rare diseases.
And all of this information is presented alongside a detailed timeline of the rare disease journey from symptoms, through diagnosis, to treatment”
Get the ebook here.
“We are part of a growing movement to raise global awareness of rare diseases. We are so pleased to offer this book focused on helping families navigate rare diseases in the age of genomic medicine,” said the book’s co-author Ana Sanfilippo. “It’s been a privilege to work with so many experts including world-class physicians, leaders in top biotech companies and a Nobel Prize winner – who all share their deep insights for rare disease parents”
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