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‘It Will Consume Your Life’: 4 Families Take On Rare Diseases – The New York Times

https://www.nytimes.com/2020/07/07/health/rare-diseases.html

When Grace Wilsey was born in 2009, Mr. Wilsey and his wife, Kristen, now 39, knew right away she had some problems. She was floppy and did not seem to be alert. She did not develop normally — she did not sit up, or crawl. She did not learn to walk or talk.

When Grace was three, Mr. and Mrs. Wilsey found out why — Grace had a genetic disorder so rare only one other child in the world, a little boy in Utah, was known to have it. It was caused by a mutation in a gene, NGLY1, but scientists did not know what that gene did or why a mutation would result in such devastating effects. They didn’t know how the disease would progress or if Grace would die young.

Mr. Wilsey sprung into action. He asked Stanford physicians for guidance and was told he needed a foundation with a good advisory committee. Having money is great, they said, but you have to know whom and what to spend it on.

He started a foundation and began cold calling and emailing scientific luminaries, asking if they would talk to him and agree to work on the project. So far, the foundation has raised $9 million, mostly from friends and family.

Carolyn Bertozzi, a chemist at Stanford, was one of his initial recruits.

“He is really good at forming personal relationships,” Dr. Bertozzi said. “That allowed him to convince total strangers to join his team and work on his cause.”

She was also touched by Mr. Wilsey’s story and intrigued by the scientific challenge.

“Imagine you are a parent. No one had ever had this diagnosis before, and you have no idea what to expect.”

She was not alone. Mr. Wilsey managed to recruit about 150 eminent scientists as advisers, with some actively working on the research problem. They include Jennifer Doudna, the Crispr gene-editing pioneer; Dr. Shinya Yamanaka, the 2012 Nobel laureate; and Rusty Gage, an expert on nerve development.

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