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Rare Diseases

Find out more about Genuity's Rare Disease study

Rare Diseases affect an estimated 300,000 people in Ireland meaning one person in 12 may have a rare disorder at some stage in their lifetime. The Rare Disease Research Programme at Genuity, in conjunction with Children’s Health Ireland at Temple Street, is offering children with undiagnosed disorders, and their families, access to free whole genome sequencing with the aim of identifying the genetic cause of their child’s disorder. If you have a child with an undiagnosed disorder, they may be eligible to participate in this study. This study is currently running at Children’s Health Ireland at Temple Street.

Register your interest below for our study

If you have a child with an undiagnosed condition and would like to know more about Genuity's Rare Disease Programme please complete the form below. Genuity will use this information to:

  • register your interest in the Genuity Science's research study on Rare Diseases
  • notify you if a Genuity study site opens up in the hospital site and/or county you have indicated
  • use consultant, hospital site and county of residence information to build metrics to help us best understand geographic demand for new study sites
  • keep you informed of Genuity news if you elect to sign up to receive general news on Genuity Science

All fields with exception of first name and email address are optional.

Register your interest below for our study

If you would like to know more about Genuity’s Rare Disease study please complete the form below.

All fields with exception of first name and email address are optional.


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