This is a continuation of the post from last week on the early-onset epilepsy patient, whom doctors were able to devise an individualized treatment for. The treatment was based on Emory research on the molecular effects of a mutation in the patientâ€™s GRIN2A gene, discovered through whole exome sequencing.*
For this patient, investigators were able to find the Ray Ban Baratas cause for a previously difficult to diagnose case, and then use a medication usually used for Alzheimerâ€™s disease (memantine) to reduce his seizure frequency.
Last week, I posed the question: how often do we move from a disease-causing mutation to tailored treatment?Something similar is happening often in the cancer world; medications such as crizotinib (lung cancer) and vemurafenib (melanoma) are designed to target a specific type of mutation in the tumor that is driving out-of-control growth. And outside the cancer world, Kalydeco for cystic fibrosis is a good example.
However, this story is not really the same. For cancer targeted therapy, there are enough patients whose tumors have similar mutations that it is worth the investment for ray ban outlet industry to develop drugs against them. Here, we have an individual patient with a rare mutation who received an â€œoff-the-shelfâ€ (already FDA approved) drug, but repurposed. This would not have been possible without the pre-existing wealth of pharmacological information about NMDA receptors, gathered by investigators such as Traynelis and Yuan.
There is a possibility that this mutation/medication combination may be relevant for other patients with mutations in the same gene, which I will handle with the third post when the clinical paper comes out.
Emory geneticist Joseph Cubells reported something similar a couple years ago. His team was able to customize treatment for a patient with a psychiatric disorder related to a chromosomal deletion â€“ possibly informing the treatment of similar cases.Â I invite readers to send me other examples.
Perhaps an analog to this GRIN2A paper is the effort to find tailored pharmaceutical remedies for various autism-related disorders such as Angelman syndrome, tuberous sclerosis, and fragile X. Emory has been heavily involved in the fragile X search, which has had its ups and downs.
The broad project of pharmacogenomics continues to unfold. The FDA has approved hundreds of pharmacogenomics labels but most of them are negative: if you have mutation X, often in a cytochrome p450 gene, you need to watch out because several drugs will be metabolized differently.
* Whole exome sequencing is like making an â€œexecutive summaryâ€ of the genome. [Here is a previous post on Emory Genetics involvement in whole exome sequencing-based diagnosis of a childâ€™s metabolic disorder.] It means only reading the protein-coding portions of genes, which make up Gafas Ray Ban outlet about one percent of our DNA. Mutations in the exome are more likely to have a strong effect, because they are more likely to alter the function of a protein that is important for development or organ/cell function.