Neurodevelopmental disorders are a varied group of rare disorders (RDs) that present in babies from birth or early infancy, resulting in physical and intellectual disability. Additional features including seizures, or heart anomalies may occur. More than 50% of these children will not have a genetic diagnosis. Having a diagnosis is very important. It helps individuals understand their health problems and plan for the future. Some genetic disorders are treatable and a diagnosis is the first step toward accessing treatments. A genetic diagnosis also helps us identify whether other family members' may be affected.
Autoinflammatory disorders refer to RDs that affect part of our immune system. Immune cells target the body's own healthy tissues by mistake, causing affected individuals to be very unwell with acute, severe recurrent episodes of inflammation with symptoms such as fever, rash, and/or joint swelling. Most autoinflammatory disorders are genetic. Identifying the underlying genetic cause helps doctors to understand which part of the immune system is affected and select a targeted treatment. It helps individuals understand their health problems and plan for the future. It also helps screen other family members.
Genome sequencing involves reading the spelling of an individuals’ complete genetic instruction manual, called a genome. Sequencing produces a very long list of letters A, C, G and T, thousands of pages long. Changes in the order of these letters can cause disease. The current NHS method for genome sequencing has technical limitations – it can only read short sequences of letters - affecting its ability to identify certain genetic differences and means some patients remain undiagnosed. We propose using Nanopore sequencing, a new method of genome sequencing that can read very long sequences of letters, to overcome these limitations, and improve the percentage of patients with a genetic diagnosis.
