Skip to main content
Premium Trial:

Request an Annual Quote

For a Few Answers, Maybe

The Undiagnosed Disease Network has helped some individuals with mysterious symptoms to find diagnosis, the New York Times reports.

According to the US National Institutes of Health, about 25 million individuals in the US have a rare disorder and many of them go for long stretches without a diagnosis. The Undiagnosed Disease Network is a research study funded by NIH to use advanced tools, including sequencing, to try to figure out what afflicts these patients. As the Times notes, a recent study appearing in the New England Journal of Medicine found that the network was able to provide a diagnosis for about a third of patients accepted for evaluation. Nearly three-quarters of these diagnoses were made through exome or whole-genome sequencing, the researchers reported.

The Times highlights three patients who have gone through the process, two who received a name for what ailed them and one who did not. For example, it tells the story of Dee Reynolds whose speech had become slurred and whose balance wasn't quite right, but during the course of more than a decade, doctors couldn't determine what was wrong. Reynolds, it turns out, according to the Times, had Niemann-Pick Type C, an inherited disease that is usually uncovered in childhood. It adds that while her prognosis isn't clear, Reynolds says getting the diagnosis "helped me deal with the uncertainty."

The Scan

Pig Organ Transplants Considered

The Wall Street Journal reports that the US Food and Drug Administration may soon allow clinical trials that involve transplanting pig organs into humans.

'Poo-Bank' Proposal

Harvard Medical School researchers suggest people should bank stool samples when they are young to transplant when they later develop age-related diseases.

Spurred to Develop Again

New Scientist reports that researchers may have uncovered why about 60 percent of in vitro fertilization embryos stop developing.

Science Papers Examine Breast Milk Cell Populations, Cerebral Cortex Cellular Diversity, Micronesia Population History

In Science this week: unique cell populations found within breast milk, 100 transcriptionally distinct cell populations uncovered in the cerebral cortex, and more.