OnMedica – News – Genes isolated for pulmonary arterial hypertension

Prof Morrell said such genetic studies were helping to transform our understanding of rare diseases.

He said: “Often people with rare diseases go to lots of different specialists, everybody is scratching their head a bit, we don’t know what the cause is, therefore it’s hard to find a treatment for it.

“Now being able to [genetically] sequence people with rare diseases at scale allows you to push the genetics into the clinic and into the families, and it also gives you a cause for the disease which you can potentially do something about,” he said.

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