Free E-Book – Rare Genomics

Hello everyone, we just wanted to let you know about a free e-book you can download from the Rare Genomics Institute, the book is called “Rare Diseases – Diagnosis, Therapies and Hope”.

You can download this book for free here –

This is a rare diseases E-Book focused on all rare disease audiences and includes:

  • Ten case studies of amazing discoveries from rare disease families
  • Many interviews with top doctors, researchers and genomics experts
  • A Rare Disease Parent’s Toolkit with recommendations from parents and others
  • Demystifying Genomics, which simply explains the latest revolution in medicine with plenty of information on how the sequencing process works.


Please be aware that this is written with an American perspective and does not specifically reference Diamond Blackfan Anaemia, but we do think it contains some great relevant advice for parents and families with DBA.

Kind regards,


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