Today, our local news paper published an article about "Diagnose per Gencode" ("diagnosis by DNA code").
The article (please follow the link) is based on an interview I gave a while ago.
Besides my personal story about diagnosis of a congenital myopathy (Col6 myopathy) by exome-sequencing and googling, it is a strong statement to further establish/develop genome medicine in Germany.
However, I also mention that we should not get our hopes to high about therapies. The gap between identifying the causal gene for a given rare disorder and potential therapies is smaller than ever - but finding a cure is not straight-forward or easy. However, with the to date available methods and novel technologies on the horizon - there is some light at the end of the tunnel.
JE
The article (please follow the link) is based on an interview I gave a while ago.
Besides my personal story about diagnosis of a congenital myopathy (Col6 myopathy) by exome-sequencing and googling, it is a strong statement to further establish/develop genome medicine in Germany.
However, I also mention that we should not get our hopes to high about therapies. The gap between identifying the causal gene for a given rare disorder and potential therapies is smaller than ever - but finding a cure is not straight-forward or easy. However, with the to date available methods and novel technologies on the horizon - there is some light at the end of the tunnel.
JE
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