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Professor Laurent Servais of the Department of Paeditrics writes for the Oxford Science Blog on why it is important that we become much more efficient in the diagnosis of treatable conditions and in the treatment of these diseases.

Newborn baby feet held by adult

Every year, thousands of babies around the world are born with rare genetic diseases leading to death or lifelong disability. With technological advancements in the fields of genetics and medicine, the rate of introduction of treatments for these rare conditions has grown remarkably.

Interestingly, new treatment costs can range from very little to several million pounds. A recently approved Spinal Muscular Atrophy gene therapy has been priced in the UK at ~£1,8m. Several devastating diseases affecting children can be treated with very cheap drugs and even vitamins. For example, Congenital Myasthenia may cause deep hypotonia (decreased muscle tone) and respiratory insufficiency, where the body is not provided with enough oxygen. It is a rare disease, and the patient’s journey to diagnosis can be extremely long. Nevertheless, Congenital Myasthenia can be dramatically improved with salbutamol or pyridostigmine, two very cheap drugs.

Read the full Oxford Science Blog on the University of Oxford website

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