100,000 Genomes Project

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The 100,000 Genomes Project is a project currently being undertaken across England under the Department of Health. It will create a new genomics service across the NHS to transform the way patients are treated. 100,000 genomes will be sequenced and analysed, comprised of patients with rare diseases, their families, and patients with cancer. This is currently the largest national sequencing project of its kind in the world.

The project aims to investigate the genetics behind rare disease and cancer, to gain a greater understanding of the cause of disease with hopes of being able to create personalised medical treatments. It will also provide diagnoses for patients with rare, undiagnosed conditions.

The project is exploring over 35 rare and familial neurological conditions in cases where a genetic cause is suspected but has not been identified through routine testing. This will benefit the individual patients by providing them with a genetic diagnosis and hopefully advancing their treatment. It will also help patients in the future by making it easier for them to get a diagnosis and facilitating early access to personalised medicine. It can also help families prevent diseases being passed on to subsequent generations.

For further information about the 100,000 Genomes Project please visit www.genomicsengland.co.uk.

If you would like to find out if you or a family member is eligible for the project, please contact us at uclh.rarediseases100k@nhs.net or talk to your doctor at your next appointment.

Update from the Neurology GeCIP Domain

The largest group of patients enrolled in the 100,000 Genomes Project are those with neurological and intellectual disorders. Before genetic research can begin, our initial task has been to provide a diagnosis to individuals in this cohort with mutations in known genes. In order to achieve this, like many GMCs, we have employed a multidisciplinary approach involving clinicians, clinical scientists and bioinformaticians. As these results are coming through, we are moving to deep longitudinal phenotyping and the interrogation of potential new candidate genes, with a streamlined approach to variant prioritisation and structural changes. The Neurology GeCIP are planning a group meeting in May/June of this year to stratify approaches.

As a clinical research fellow, I am interested in inherited movement disorders, specifically ataxia. The hereditary ataxias are a highly heterogeneous genetically diverse group of disorders characterised by dysfunction in gait, coordination and speech. The spinocerebellar ataxias and Friedreich’s ataxia, caused by a trinucleotide repeat expansion, are amongst the most frequently encountered. Despite this progress, a significant proportion of our patients continue to lack a molecular diagnosis. This is particularly relevant to late onset ataxias, those with incomplete penetrance and phenotypical variability. In these cases, the absence of a genetic diagnosis impedes precise genetic and prognostic counselling. We hope to solve some of these cases by detecting previously undiscovered copy number variants (CNVs) through the extraction of discordantly mapped reads and by read depth analysis. In addition to this, we will focus on rare putative deleterious variants, which co-segregate within families with multiple affected individuals.  We will also attempt validate novel variants found, through in silico analysis and functional experiments. These will differ depending on the putative function of genes discovered.

Emer O’Connor

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