CP GenIE - Cerebral Palsy Genomics in Ireland

Cerebral palsy (CP) has several well-established causes, including prematurity, hypoxic–ischemic injury, and perinatal thromboembolic events. However, a significant proportion of cases remain unexplained. Emerging evidence suggests that intrinsic factors, including genetic predisposition, play an important role in CP aetiology, with recent studies demonstrating substantial diagnostic yields from genomic testing such as whole exome sequencing (WES) and whole genome sequencing (WGS).

This project aims to better understand the role of genetics in CP in Irish children through a multi-phase approach.

Our Aims:

1. We will examine how CP is defined and classified, in genetic studies globally with the goal of understanding where our Irish CP population fit in.

2. We will assess the current genetic testing practices in Children’s Health Ireland (CHI), including uptake, the tests used, and diagnostic outcomes.

3. We will maintain a registry of children with CP who have a genetic diagnosis or a variant of uncertain significance, in collaboration with CINDI (Collaboration in Genomic Disorders in Ireland).

4. We will offer a select cohort of children with a high likelihood of a genetic aetiology further genetic testing.

Further details about our research projects are available at our .

Research Team & Collaborators

Core Team: Prof. Denise McDonald, Dr. Sinéad Lally

Collaborators: Prof. Eleanor Molloy, Dr. Susan Byrne and Dr. Janna Kenny, CINDI (Collaboration in Genomic Disorders in Ireland) registry, Dr. John Coleman, Dr Ailbhe Murphy, Dr. Angela Byrne.