Rare disease research boosted

18 August 2016
research collaboration

Research into rare diseases has been transformed by an analysis of protein-coding genetic variation in more than 60,000 people.

The study by the Exome Aggregation Consortium (ExAC), published in Nature, sequenced the exomes of 60,706 individuals of diverse geographic ancestry, including; European, African, South Asian, East Asian and Latino populations. They identified around 7.4 million genetic variants.

Analysis of  this dataset has characterised patterns of genetic variation worldwide and  the size of the dataset allows some of the first findings on mutational recurrence — rare mutations arising independently during the history of the populations.

“For patients,  when they get a correct diagnosis, there may be treatment for their disease,” said Monkol Lek, first author. He undertook his PhD at INMR, Kids Research Institute and the University of Sydney. Dr Lek is now based in Boston. He has a rare disease and it took 10 years for him to receive a diagnosis.

Humans have about 180,000 exons, constituting about one per cent of the human genome. Exome sequencing is a method for sequencing a subset of the human DNA genome that encodes proteins, known as exons. Three-quarters of known genetic disease-causing variants are located in the protein-coding exome.

The ExAC provides an openly accessible reference database and has already made a major impact on clinical research and diagnosis of rare genetic diseases.

To find out more about this research, view the video.



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