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But finding the genetic culprit turned out to be difficult.
The mechanisms behind this were unclear, but now scientists think they may have caught the genetic culprit in action.
Although only about 10% of prostate cancer victims inherit the disease, the genetic culprit could reveal broader clues about how prostate cancer wreaks its damage.
The idea is to sequence the 1% of the patient's DNA that codes for protein the "exome"—then sift the data for the genetic culprit behind the disease.
Since each individual gene may have an independent but small effect on the susceptibility and clinical manifestations of VKH disease, this increases the challenge of finding the genetic culprit in pathogenesis of VKH disease.
In 2001, researchers identified a genetic culprit for one family's early-bird tendencies, but because the mutation wasn't found in other families, researchers suspected additional genes might be involved in the condition.
Similar(52)
The search for these dosage-sensitive genetic culprits has taken advantage of both human and mouse genetics.
Several other research groups looked at families with other diseases and also found unexpected genetic culprits by sequencing all of a patient's DNA.
Like Alison Goate in England, Bird was looking for large families with a hereditary form of Alzheimer's disease to provide blood samples that could be analyzed in an attempt to isolate other genetic culprits.
The disease has a strong heritable component, but researchers have struggled to find the genetic culprits.
Entitled "Privacy and Progress in Whole Genome Sequencing," the report notes that genome sequencing holds "enormous promise" and is already helping researchers track down the genetic culprits behind rare diseases, for example.
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