Rare Disorders

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 GMI, 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.


Rare Disorders

If you have a child with a rare disorder, please speak with your clinician to discuss eligibility in this study. We are currently running a study in Rare Disorders at the following location:

Temple Street Children’s University Hospital
Temple Street
Dublin 1
Tel: 087 792 2940
email: gmi.study@cuh.ie

Register your interest below for our Rare Disorders study

If you would like to know more about GMI’s Rare Disease Programme please complete the form below. GMI will use this information to:

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

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

Genomics Medicine Ireland