Rare Disease

What is a rare disease?
What is a rare disease?
A rare disease is a condition that affects fewer than 1 in 2,000 people. In Ireland, there are over 300,000 people affected by a rare disease, and many of these are children. Almost 8,000 rare diseases have been discovered, and most of these are genetic. However, all genes that cause rare diseases have not yet been identified. This means that for many children and families affected by a rare disorder, finding a diagnosis can be a long and frustrating journey. This is where whole genome research can help.
Whole Genome Sequencing
Whole Genome Sequencing
Whole Genome Sequencing is a tool that is used to read an individual’s entire set of genes. A person’s entire set of genes is known as the genome. The human genome is made up of around 22,000 genes. A change in a gene, known as a variant, can sometimes cause a person to develop a disease. There are some variants in specific genes that are already known to cause disease. There are however many variants in genes that cause disease that have not been identified. Whole Genome sequencing can help identify a variant that may be causing a condition, and this may lead to a diagnosis for families. New discoveries may also be used to help reach a diagnosis for other children and families with similar findings.
Empowering families
affected by rare disease
Empowering families
affected by rare disease
Finding a diagnosis for a child affected by rare disease can bring new hope for the family. A diagnosis may provide new treatment options and provide guidance toward a more individualised and specialised care plan for the child. A genetic diagnosis in many cases helps families make more informed decisions around future family planning. Knowledge and recognition of a rare disease when diagnosed is empowering for families.

The Genuity Science Rare Disease Programme

Genuity Science is working with one of Ireland’s largest children’s hospitals, CHI at Temple Street, on The Genuity Science Rare Disease Programme, which began in 2016. The aim of this programme is to support clinicians, families, and patients with paediatric rare disorders where the suspected cause is genetic.

Through this programme, children with undiagnosed disorders, along with their parents, can have their whole genome sequenced by the Genuity Science genomics laboratory, at no cost.

The family’s genetic code is analysed by a dedicated team of researchers alongside the child’s clinical information, which is provided with the consent of parents, in order to search for any potential disease-causing variants that could explain the child’s condition. Genetic findings are reported back to the clinician
which may help them to reach a diagnosis.

In cases where no disease causing variant is identified on the first analysis, Genuity Science will periodically review those families with a negative research result for 6 years in the hope that new research and evidence may emerge over time which may lead the team to identify the cause of their child’s disorder. Consequently, more families could receive a diagnosis over time

What's involved in taking part?

Who can take part?

  • All children attending CHI at Temple Street with an undiagnosed disorder are eligible
  • Participation in the study is free of charge for both clinicians and their patients
  • This study is not a clinical diagnostics service. All research findings provided by Genuity Science must be independently verified and the responsibility for this validation lies with the referring clinician

What happens to my child's data?

  • All samples and data are pseudonymised and personal identifiers removed before being sent to Genuity Science, therefore the team at Genuity Science do not know what families are taking part in the study
  • All results are returned to CHI at Temple Street only and all data is made available to the referring consultants. The programme is separate from Genuity Science's commercial research studies, and data from this study is not made available to Genuity Science's commercial partners

Diagnoses for Families

  • Together, Genuity Science and CHI at Temple Street have, to date, successfully achieved a 20-25% uplift in diagnosis - many of these diagnoses are for families who have gone through a very long and tedious diagnostic odyssey

Programme Success

As the Genuity Science Rare Disease Programme advances, with access to Genuity Science's state-of-the-art genomics lab and the most advanced technology available, the dedicated research team are beginning to see results.

The Impact of the Rare Disease Programme


from nine specialities

Over 200

Families enrolled

Over 600

Samples sequenced at our Genomics Lab in Dublin, Ireland.


Cases who have received genetic findings of clinical significance.
Click to see examples of genes that carried variants which have been identified and reported back to the referring clinician through this programme.
Associated with FG syndrome-4 / Intellectual disability and microcephaly with pontine and cerebellar hypoplasia / Intellectual disability, with or without nystagmus
gene associated with Combined oxidative phosphorylation deficiency 35
gene associated with Neurodevelopmental disorder with involuntary movements
gene associated with Epileptic encephalopathy, early infantile, 65
gene associated with Dejerine-Sottas disease / Charcot-Marie-Tooth disease
gene associated with Chitayat syndrome
gene associated with Pitt-Hopkins syndrome
gene associated with Intellectual disability with language impairment and with or without autistic features
gene associated with Arboleda-Tham syndrome
gene associated with Intellectual disability, autosomal dominant 56
gene associated with Intellectual disability and distinctive facial features with or without cardiac defects
gene associated with Craniofacial dysmorphism, skeletal anomalies, and Intellectual disability syndrome
gene associated with Epileptic encephalopathy, early infantile, 59 / Neurodevelopmental disorder with poor language and loss of hand skills
gene associated with McCune-Albright syndrome
gene associated with Sifrim-Hitz-Weiss syndrome
gene associated with Cohen-Gibson syndrome
gene associated with Nephrotic syndrome, type 12
gene associated with Neurodegeneration with brain iron accumulation 2B / Infantile neuroaxonal dystrophy 1
gene associated with ZTTK syndrome
gene associated with Epileptic encephalopathy, early infantile, 43
gene associated with Episodic ataxia, type 2 / Migraine, familial hemiplegic,1 Spinocerebellar ataxia 6 / Epileptic encephalopathy, early infantile, 42
gene associated with WHIM syndrome
gene associated with Rett syndrome
gene associated with Mitochondrial complex I deficiency, nuclear type 25
gene associated with Epileptic encephalopathy, early infantile, 36
gene associated with Neurodevelopmental disorder with spastic diplegia and visual defects
gene associated with Epileptic encephalopathy, early infantile, 33 / Intellectual disability, autosomal dominant 38
gene associated with Gillespie syndrome / Spinocerebellar ataxia 15 / Spinocerebellar ataxia 29, congenital nonprogressive
gene associated with Epileptic encephalopathy, early infantile, 7
gene associated with Arthrogryposis, distal, with impaired proprioception and touch
gene associated with Hao-Fountain syndrome
associated with childhood onset dystonia

The impact of genomic research in rare disease

Recent Publications

Read about our findings below

Expansion of the phenotype of biallelic variants in TRIT1

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Register your interest below for our study

If you would like to know more about Genuity Science’s Rare Disease Programme or if you would like to tell us about your experience with this programme, please complete the form below. Genuity Science will use this information to register your interest in the Genuity genomics research study on Rare Diseases

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