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Help patients get faster diagnoses to genetic diseases

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Decoding genetic diseases

When the human genome was sequenced in 2003, people thought that all diseases would be cured thanks to this “book of life”. However, the letters (bases A,T,C,G) don’t mean anything if you can’t read the words (the genes).

Since then researchers have strived to understand this code and huge advances have been made. For example, doctors know that a single base change, out of a possible 3.3 billion, explains why people suffer from cystic fibrosis, a breathing disease.

3.5 million people in UK have undiagnosed diseases

While any individual undiagnosed condition may be rare, overall a surprising number of people have undiagnosed diseases - 3.5 million people in the UK alone. Many of these are still waiting for a diagnosis.

Congenica - Rare diseases in big numbers
Rare diseases in big numbers

We help patients get faster diagnoses

This is where Congenica makes a difference - we are helping these patients get faster diagnoses. Our company is a spin-out from the Wellcome Trust Sanger Institute in Cambridge and the UK Department of Health.

Starting from their work, we built Sapientia, a platform that allows clinicians to rapidly screen all of a person’s genes to identify any mutations and to isolate those that could cause a disease, instead of test just a few genes at a time.

Decoding the patient

Looking for specific mutations known to be pathogenic can work for some well-described diseases, but it generally fails in most cases. In essence, we are conducting all possible genetic tests at once, including ones yet to be discovered.

Sapientia identifies gene mutations and highlights those that may be associated with inherited genetic disorders. This data is presented to the clinician in an intuitive way that allows them to make a faster diagnosis by combining both the physical symptoms and the genetic profile of the patient, rather than just their symptoms.

The more information collected, the faster the diagnosis

As a clinician identifies a mutation associated with a disease or disorder, this is stored within Sapientia, along with the clinician’s expert opinions, to aid other clinicians when diagnosing their own patients with similar conditions. This creates a virtuous circle: the more information collated in the knowledge base in Sapientia, the more likely a faster diagnosis for future patients.

Sapientia already in use

Thanks to our collaboration with the NHS, including Great Ormond Street Hospital, Manchester Centre for Genomics Medicine and the hospitals in the Northern Health Science Alliance (NHSA), as well as diagnostics labs in the USA, we are progressing quickly, and Sapientia is now used in many regional genetics centres to benefit the patients.

Omics, and drug development

Identifying the genetic changes that allow clinicians to identify a disease is a huge leap forward, but how do these genetic changes affect the cell and how can we correct them?

The messenger RNA is the molecule transporting the instructions from the DNA to the machinery that makes the protein, which in turn affects the metabolism. The mutations affecting the messenger RNA and the protein are actually how the cell’s functions are affected.

Congenica was awarded an Innovate UK grant to take Sapientia to the next level; to extend its capabilities to include transcriptomics (changes in RNA) and proteomics (changes in the proteins). This means the clinician can go beyond only giving a diagnosis and by knowing how these mutations change the patient’s cells to give rise to the condition, they can work out how to target these pathways and offer treatments.

This is a big and ambitious project; many of these so-called omics technologies are relatively new, and we still have a lot to discover about how all the parts work with each other. However, our team are fortunate to work with world-leading health service clinicians and researchers, as well as pharmaceutical and biotechnology companies, to transfer these technologies from research to applications, providing a deeper understanding of the mechanisms and potential therapies for these conditions.

Next step?

As we move forward, we see Sapientia, and other tools being developed at Congenica, delivering an arsenal of new technologies with which we, and our partners, can better understand and begin to treat a wide range of patients with conditions which are currently poorly understood or characterised.

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