Genomic medicine is coming of age: from disease diagnosis to new drug treatments
UCLH BRC teams are leading the way to deliver the national genomic medicine strategy, Genome UK, and make personalised medicine a core part of NHS care. They have identified the genetic causes of previously unexplained rare diseases and developed diagnostic tools and analytic approaches that are helping to identify potential new drugs.
There are approximately 10,000 rare diseases, which affect approximately 300 million people world-wide. In about half of these cases the genetic causes are unknown, hampering effective diagnosis and treatment.
Understanding how genes vary and how they affect the development of disease is essential to finding effective medicines. Recent technological advances allow whole genomes to be sequenced rapidly. This data can then be linked to NHS health records, opening new avenues for innovation in genomic medicine and drug discovery.
Almost a quarter of participants in Genomics England’s 100,000 Genomes Project (a database of the genomes of 100,000 NHS patients) have been treated at UCLH’s specialist hospitals, which are national referral centres for rare diseases. A multidisciplinary team of data scientists, epidemiologists, software engineers and clinicians have developed algorithms to convert routine health records into data for research and have now indexed approximately 5000 diseases that have been diagnosed and managed at UCLH hospitals.
This unique reference library of human disease makes UCLH the ideal setting to innovate and deliver genomic medicine for routine NHS care, reducing costs and improving patient experiences and outcomes.
UCLH BRC genomic medicine programmes have identified the genetic causes of several previously unexplained diseases. For example, UCL researchers identified defects in the RFC1 gene as the most common cause of late-onset ataxia, a condition that damages the brain and causes movement and balance problems, leading to a new genetic test and the diagnosis of more than 1400 patients worldwide (1).
Experts at UCLH BRC have also discovered new ways of using genetic information to identify drug targets and have developed analytic software tools to process large volumes of data and accelerate genetic research (2). As a result, UCLH BRC investigators lead several major international genomic research initiatives. For example, the HERMES consortium, investigating how heart failure develops and forming the basis for a UCL-Pfizer drug development partnership (3).
1. Cortese A, Nat Genet, 2019
2. Finan C, Sci Transl Med, 2017
3. Shah S. Nat Commun, 2020
