Bainbridge Whole-Genome Sequencing for Optimized Patient Management

information about a patient's disease, leading to more optimized treatment and a better outcome. only one twin pair, it does demonstrate how whole-genome sequencing could be applied to glean more detailed and coordination, and reduced hand tremor as evidenced by more legible handwriting. Although this study involved they showed improvement in their symptoms after 1 to 2 weeks, including greater attention in school, better motion symptoms. Sure enough, when the twins were given both l-dopa and 5-hydroxytryptophan instead of l-dopa alone, current l-dopa treatment with a serotonin precursor, 5-hydroxytryptophan, might provide further improvement in their dopamine but also the neurotransmitter serotonin. This finding suggested to the authors that supplementing the twin's encoding sepiapterin reductase, which synthesizes a cofactor needed for the action of enzymes that make not only gene SPR mutations in the two genes most commonly mutated in DRD. Instead, they pinpointed a mutation in the Bainbridge and colleagues analyzed the full genome sequences of the twins, they were surprised to discover no to fit the classic description of DRD and were given l-dopa, which did help to alleviate many of their symptoms. When to treat the common movement disorder Parkinson disease. When the twins were diagnosed with DRD, they seemed treatment for DRD is to replace dopamine by providing a dopamine precursor called l-dopa, the drug that is also used and may be mistaken for other movement disorders involving loss of the neurotransmitter dopamine. The standard responsive dystonia (DRD). This complex disorder is difficult to diagnose − disorder dopa (3,4-dihydroxyphenylalanine) genomes of a male and female fraternal twin pair, who had been diagnosed 9 years earlier with the movement . sequenced the complete et al patients? A new study by Bainbridge and colleagues suggests that it can. Bainbridge disease-causing mutations, but can it help physicians make better decisions about treatment options for these Whole-genome sequencing of DNA from patients with different diseases is proving useful for identifying new Guiding Treatment with Genomics