If you were born with a rare form of blindness, there is now a treatment for you that may restore your eyesight. That’s because gene therapies became a clinical reality in 2017. Yet many people with rare diseases that could be treated in this way may never benefit from these therapies because they are too expensive for drug companies to develop, or too costly for the patient or health service to afford. Is witnessing a starry night worth an eye-watering US$425,000 per eye?
There are fewer things more harrowing than news that your child suffers from a rare genetic disorder that will consign them to a disabled, progressively worsening or possibly very short life. For example, spinal muscular atrophy is a debilitating, muscle-wasting disease caused by death of neurons (nerve cells) in the spine. The neurons are meant to produce a protein that is necessary for their survival, but in these patients, the levels of this protein are low to nonexistent. And the lower the level of this protein, the more the patient suffers.
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