Rather than employing the traditional approach of a large, disease-specific research group which focuses on a common disorder, our PIs focus on rare genetic disorders and utilise new tools from the genomics revolution to aid our study of common and rare disorders. We pursue an integrated approach to our work, which involves close collaboration across clinical and research teams.

In Ireland there are about 280,000 individuals with a rare disease. In addition, there are approximately 60 identified recessive disorders in the Traveller population. In a pilot study we have completed data analysis on six of ten rare disorders of unknown genetic basis, affecting 25 small Irish families. Of the six studies, the disease mutation has been successfully identified for five families, of which three studies have been published to date, with four translated back into the clinical setting. This translational success demonstrates our ability to identify rare disease genes in small families.

We have recently consolidated our various working groups under one recognisable centre to harness the successful outputs and future studies for UCD. A UCD academic centre on rare diseases is uniquely positioned to contribute to this plan. The centre aims to make a meaningful contribution in the progression of gene discovery to diagnostics, and ultimately in the cure or prevention of serious genetic conditions.

Research at UCD Academic Centre on Rare Diseases is currently addressing a multiple of rare genetic conditions including:

• Autism
• ACTH/NK cell deficiency
• Infantile liver failure
• Anophthalmia
• Dilated Cardiomyopathy
• Micocephaly
• Primary Ciliary Dyskinesia
• Episodic Ataxia
• Immunodysplasia
• Landau-kleffner Syndrome LKS
• Ptosis +
• FAS
• Autism & Methylation
• Epilepsy and Regression
• Multiple ataxia families (5 additional families consented, more being approached)
• A large Irish family with paryoxysmal dyskinesia
• A family with developmental delay and iron absorption dysfunction
• A family with calcification of the brain in 2 children
• 2 Samples with sex reversal
• Sample with cutus gyratus
• 2 sibs with profound growth retardation
• Hypothalamic hamartomas (HH)
• Rare skin condition
• Subglottic stenosis
• Dandy walker syndrome
• Kartageners syndrome (mapped to novel locus on X-chromosome)
• Pyloric/ Intestinal Web
• Epileptic encephalopathy family
• VUR

In Ireland there are upwards of about 280,000 individuals with a rare disease and approximately 60 recessive disorders within the Irish Traveller population. Worldwide there is an estimated 350 million people affected with a rare disease at any given time. Currently there are over 7,000 recognised rare diseases. Within the European Union a rare disease is one that affects less than one in every 2,000 individuals.

Because of the number of individuals afflicted by any one rare disease is so small resources to investigate the causes of rare diseases, to develop diagnostic testing and to cure or prevent serious genetic conditions has tended to be very limited.

The Academic Centre on Rare Diseases brings together resources and the inter-disciplinary expertise of scientists with a focus on finding the genetic cause of rare diseases and translating these findings back to a clinical setting. 

This involves many inter-disciplinary research links between clinical geneticists, non-clinical geneticists, bioinformaticians, computer scientist, cell biologists, molecular diagnostic clinical scientists and pharmacologists.

UCD Academic Centre on Rare Diseases current and past research programmes are supported by;

• The Health Research Board
• The Children’s Fund for Health, Temple Street, Dublin
• The National Children’s Research Centre
• The Medical Research Charities Group (MRCG) 
• Research Ireland
• Shriners Hospitals for Children (UK) 
• Ataxia Ireland 
• The National Centre for Medical Genetics (NCMG) 
• Irish Platform for Patients' Organisations, Science and Industry (IPPOSI)
• Rare Diseases Ireland

• It is possible to make a donation towards ‘Research into Rare Diseases’.
• This may be made through the UCD Foundation web page by selecting ‘Ways to Give’ from the dropdown menu.

Philanthropic or corporate donations may be made by contacting:

Contact: https://www.ucdfoundation.ie/contact-us/ 
W: UCD Foundation (donations)

• Online Mendelian Inheritance in Man (OMIM)
• OMIM- NCBI - National Center for Biotechnology Information
• Orphanet
• Unique - The Rare Chromosome Disorder Support Group
• UCD Rare Disease Handbook