Rare Diseases

 We apply our expertise and technologies to develop and implement comprehensive analysis and diagnosis of rare genetic diseases.

Many rare diseases (defined in the EU as those that affect less than 1 in 2000 of the population) are genetic in origin and result from change in a single gene (so called Mendelian disorders). These disorders are particularly amenable to genetic and genomic approaches to understanding, diagnosis and, increasingly, developing treatments.

What we do

We are actively involved in supporting the Welsh Implementation Plan for Rare Diseases through our research and education and engagement teams, working with people and teams in Wales who have expertise in specific rare disorders including inherited cancer syndromes and neurogenetic and neurodevelopmental disorders.

We will also work closely with the All Wales Medical Genetics Laboratory to develop and implement comprehensive, accurate and rapid diagnosis of rare genetic diseases by next generation sequencing.

Research areas

  • Diagnosis of Rare Genetic Diseases
  • Familial Cancers
  • Neurogenetic and Neurodevelopmental Disorders
  • Clinical Trials for Rare Genetic Disorders
  • State of the art Next Generation Sequencing technologies

Education and Engagement

Our collaboration with Genetic Alliance UK facilitates involvement of patients across the research pipeline from setting research priorities and study design to input into health and social policy.

The Wales Gene Park Education and Engagement team delivers education and training programmes that enable health and social care professionals to better identify rare diseases to help deliver faster diagnosis and access to treatment pathways for patients, supporting directly the objectives of the Welsh Implementation Plan for Rare Diseases.