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Scripps Study that Aims to Unravel Inscrutable Diseases Chooses Initial Case


Researchers have chosen the first patient to have her whole genome sequenced and analyzed through Scripps Health's Idiopathic Disease of Man study.

First announced in October, the Scripps-led initiative centers on using whole-genome sequencing on patients affected by debilitating idiopathic diseases.

For its first participant, the Scripps Translational Research Institute's Nicholas Schork says the team has chosen a 13-year-old girl with a debilitating neuromuscular condition of unknown cause that has confined her to a wheelchair for several years. "They've ruled out everything they can think of, and are just at their wits' end for what might be going on here," Schork says of the young girl's physicians. To be considered for this study, potential participants must be referred by a clinician — "a physician who's either tending to the case or is willing to work with the research team to go over the details of the sequencing, what emerges from the sequencing, et cetera," he adds.

For patients affected by idiopathic congenital conditions, Schork says having access to parental DNA would be ideal. "The idea there is so that we could identify putative modes of inheritance for the variants that might be pathogenic — whether they're compound heterozygous, whether it's recessive, or whether the variants are in fact de novo," he says. And for patients affected by rare cancers, Schork and his colleagues hope to have genomic DNA from both the tumor and germline. "We would like to be able to identify potential somatic mutations and we couldn't do that if we just had a tumor sample," he says.

Though this sequencing study has its roots in the clinic, Schork emphasizes that it is currently for research purposes only. "We're happy to be moving this forward, but we have to say that there are no guarantees that this is going to work for any one particular patient," he says.

The Scripps study is not the first initiative to try to understand idiopathic or otherwise rare diseases. The National Institutes of Health's Undiagnosed Diseases Program has used million-SNP arrays, exome sequencing, and whole-genome sequencing, among other approaches, to diagnose 39 cases in its first two years. And last December, researchers at the Medical College of Wisconsin announced that they had pinpointed the genetic cause of then five-year-old Nicholas Volker's debilitating disease and used it to treat him successfully.

But while it's promising, Schork says that whole-genome sequencing is unlikely to solve every idiopathic case. "For every one Nicholas Volker story out there, there may be countless others where it was tried and it wasn't so obvious," he adds. "There's so much that we don't know that there are no guarantees that we're going to benefit patients in the near term, but we believe whole-heartedly that we will help patients in the long term."

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