No boy should have a last stretch of days. But Bertrand Might lived his as well as any boy could: There was a Star Trek marathon with his brother and sister, sunrises on the lakeshore, and visits with family in parks, beaches, and backyards anywhere they could safely gather during the pandemic.

His father, Matt Might, said it ended up being an unplanned farewell for 12-year-old Bertrand, whose health had always been precarious. He was the first person in the world diagnosed with a particular neurodegenerative condition that causes developmental delays, seizure-like activity in the brain, and frequent infections.

One of those infections, unrelated to Covid-19, led to his death on Oct. 23 after he spiraled into septic shock. But if his passing came too soon, it did not come before his life led to crucial discoveries for dozens of children with his condition.

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What he did with NGLY1 alone was pretty powerful, said Matt Might, referring to the gene involved in his sons disease. After years of research, it was the discovery of a double mutation in Bertrands NGLY1 gene, and the constellation of symptoms linked to it, that explained the cause of the illness and built a worldwide community around it.

There are 70 families on the patient mailing list right now for a disease that eight years ago didnt exist, Might said.

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Bertrand also inspired a quest by his father, an artificial intelligence expert and computer programmer, to employ precision medicine on a wider scale, using genetic data to help tailor treatments to patients with rare and hard-to-treat diseases like his sons.

Might began that work initially to help Bertrand, but it led to a stint on President Obamas precision medicine initiative and the creation of a new precision medicine institute (PMI) he now leads at the University of Alabama, Birmingham.

PMI was founded on this algorithm that Bertrand taught me, Might said. How do you try to therapeutically modulate a specific genetic target? There is a central game plan we use every time somebody comes in.

Might and his team examine what gene is involved in a persons condition and whether it is under-reactive, over-reactive, toxic, or missing altogether. The answers to those questions form the basis for a scientific process that often gives patients hope when conventional medicine has failed to provide an accurate diagnosis or effective treatments. A permanent endowment has been established at UAB in Bertrands name to fund advanced diagnostics and research to identify novel therapies for patients with no other options.

In Bertrands case, the double mutation in NGLY1 left him without an enzyme that facilitates the recycling of cellular waste. It severely limited his mobility, requiring him to use a wheelchair, and also impaired his liver function and ability to communicate.

Still, Bertrand drove the science of his condition while enduring countless hospitalizations, often due to infections that made it difficult to breathe.

Throughout his life, he developed a love for dolphins and an aquarium his parents set up in his bedroom. He spent hours learning words and reading with his father and mother, Cristina, and he bonded with his younger brother and sister over movies and video games.

Im proud of Bertrand in multiple ways, Might said. I would often tell people to imagine a being created without the ability to even feel malice. He was just a pure being, and I loved that about him.

In recent years, the science that led to his diagnosis has also begun to unravel the biology of NGLY1 deficiency and its impact on patients. A project sponsored by the National Institutes of Health is underway to screen hundreds of thousands of molecules for therapeutic potential against the illness, while Might has used computational methods to identify treatments that showed efficacy in animal subjects.

On Bertrands last day in the hospital, as his condition continued to deteriorate, his father read him an email from the father of another patient with his illness. It said that the Food and Drug Administration seemed pleased with pre-clinical studies of a gene therapy for NGLY1 and outlined a series of steps toward a clinical trial.

It was so meaningful to know the community that Bertrand formed has spawned efforts well beyond my own, Might said. And in the end, he died in a world where the hope of a cure existed.

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The life and death of a boy whose diagnosis brought hope to other patients - STAT