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As a diagnostic tool, sequencing seemed to work. Then there was Bertrand. The Duke team thought it was likely that mutations on one of his candidate genes, known as NGLY1, were responsible for his problems. Normally, NGLY1 produces an enzyme that plays a crucial role in recycling cellular waste, by removing sugar molecules from damaged proteins, effectively decommissioning them.

Diseases that affect the way proteins and sugar molecules interact, known as congenital disorders of glycosylation, or CDGs, are extremely rare—there are fewer than five hundred cases in the United States. Since the NGLY1 gene operates in cells throughout the body, its malfunction could conceivably cause problems in a wide range of biological systems. Freeze was unable to find evidence of a functioning NGLY1 gene.

Goldstein, who was meeting the Mights for the first time, spoke next. Moreover, without additional cases, there was virtually no possibility of getting a pharmaceutical company to investigate the disorder, no chance of drug trials, no way even to persuade the F. As recently as a decade ago, researchers could spend years trying to find a second case of a newly discovered disease.

When a paper describing two or more cases finally appeared in one of hundreds of medical journals, it still had to be read and remembered by clinicians in order for awareness of the disorder to spread.

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Genetic sequencing has dramatically sped up the process, theoretically enabling a child like Bertrand to receive a tentative diagnosis in just weeks or months. But a number of factors prevent sequencing from reaching its full diagnostic potential. Researchers also hesitate to share data with potential competitors, both to protect their funding and to insure that they get credit for their work.

This gave them access to the genetic data of more than six thousand people—a small fraction of those around the country who have been sequenced. But it would also have to share credit with competitors who may have done nothing more than grant access to existing data.

The current academic publication system does patients an enormous disservice. The National Institutes of Health is taking steps to promote the sharing of genomic data about rare diseases. Each center will mirror the type of work being done by the N. Kohane, who develops software to make it easier for institutions to share information, will organize the initiative. The same day that they learned about NGLY1, they began plotting ways to find more patients on their own.

It took three years. But we did it. I should clarify one point: my son is very much alive. Yet, my wife Cristina and I have been found responsible for his death. The next morning, an editor from Gizmodo, a tech blog owned by Gawker Media, asked Matt for permission to republish the essay. In less than twenty-four hours, the post had gone viral. Eight days later, the co-founder of a commercial genetic-testing company in San Francisco e-mailed the piece to a friend, Matt Wilsey. Matt Wilsey, who is thirty-six, graduated from Stanford in After working on George W.

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In the fall of , he married a former classmate at Stanford. Two years later, Matt and Kristen Wilsey had their first child, a girl they named Grace. Petersburg, Florida. He has a wide smile and black hair that is flecked with gray. Within days, Grace was admitted to the neonatal I.


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Her doctors collected a number of samples, including cerebrospinal fluid from a lumbar puncture. In the months to come, the Wilseys received one piece of bad news after another. They were told that Grace was not growing sufficiently, that she had low muscle tone, and that there were signs that she was suffering from developmental delays. During the next two years, Matt Wilsey used his networking skills to set up meetings with specialists at institutions around the country, including Baylor College of Medicine, in Houston; the Broad Institute of M.

She also had a vocabulary of more than two dozen words, and was able to follow one-step directions, while Bertrand could only make indistinguishable grunts.


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So we just ruled it out. As it happened, Stanford geneticists had identified NGLY1 as a candidate gene, but they set it aside because Enns believed that Grace was suffering from an unidentified mitochondrial disorder.


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By the time Grace turned three, that October, the Wilseys had consulted more than a hundred researchers around the world, yet they were still without a diagnosis. Matt asked Kristen if they could make one final trip to Baylor, and in February of the Wilseys took Grace back to Houston. They were introduced there to a young geneticist named Matthew Bainbridge. When he searched a Baylor database of more than seven thousand people, he found that a handful of them had a single NGLY1 mutation, but none had two. Bainbridge next looked online for information about the gene. Kristen replied almost immediately: Grace could produce tears but not very often.

I have only seen it a handful of times in her three years. On March 19, , Bainbridge sent the Mights an e-mail. The next day, the Mights received an e-mail from Matt Wilsey. In August, Freeze confirmed that the siblings were suffering from the same condition as Bertrand. Then, the following March, nine days before the Mights learned of Grace Wilsey, they were contacted by a researcher working with an Israeli medical geneticist named Tzipora Falik-Zaccai, who said that their group had also identified siblings with NGLY1 mutations. In May, the Mights received an e-mail from Pam Stinchcomb, a woman in Georgia who had just learned that two of her daughters had NGLY1 mutations: Jordan, sixteen, who had been thought to have cerebral palsy, and Jessie, who was two.

Later that month, the Mights heard from a doctor in Delaware with a twenty-year-old patient in whom sequencing had just revealed two NGLY1 mutations. The most remarkable discovery came in June. Cristina Might received an e-mail from a German woman who was living in India with her husband and their severely disabled two-year-old son. She asked that her name be withheld. Bertrand was about to turn six, and soon it would be difficult to carry him up and down stairs.

The new house had several amenities for a family with a handicapped child, including an entrance at street level, wider hallways, and an elevator. I visited the Mights three days after they moved. When I arrived, Cristina told me that she was two months pregnant. Because his diagnosis revealed that Bertrand was not suffering from a seizure disorder, he was no longer on a severely restrictive diet or receiving painful, sometimes dangerous treatments such as steroids.

Two over-the-counter supplements seemed to be helping, as well.

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The first was a highly concentrated cocoa extract. The second was N-acetylcysteine, or NAC, an amino acid that helps produce a naturally occurring antioxidant. It helps that both the Mights and the Wilseys have family money. Eighteen departments from eleven institutions in the U. It was later rejected. When I contacted Falik-Zaccai, in March, she denied this account and said that she would be delighted to work with the other researchers.

The Might and Wilsey collaboration has also prompted the N.

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This past spring, the agency began inviting NGLY1 patients to come to Bethesda for a week of tests and examinations. Study This. Bible Gateway Recommends. View More Titles.