A UK-wide research collaboration through the NIHR BioResource for Rare Diseases has combined whole genome sequencing with a statistical program called BeviMed to predict the existence of disease-causing changes in the DNA of people with Primary Immunodeficiency.
PID is a severe condition with a range of symptoms, including repeated severe (and often life-threatening) infections, autoimmunity (where the body’s immune system attacks itself) and early onset of cancers. PID is challenging to diagnose and treat, but understanding the genetic cause of the condition in each individual can help to identify the most effective treatment.
In this NIHR Cambridge Biomedical Research Centre (BRC) funded study published in Nature (06 May), the research team sequenced the entire genetic code of 974 people with PID. The team were able to identify variations (changes) in genes already known to cause PID in almost 1 in 5 of the study participants, providing them with a genetic diagnosis for their condition.
To help identify genetic causes for the remaining participants and other patients with PID, the team used a statistical program known as BeviMed. BeviMed can be used to predict genes that may cause PID, by comparing the genomes of cases (people with PID) and controls (people without the condition). Using this technique, the team were able to identify new genes that cause PID.
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Published May 7, 2020
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