She hoped key research could help save her eyesight. Then the Trump funding cuts came : Shots

Jessica Chaikof was born with Usher 1F syndrome, which leads to congenital deafness and possible blindness.

Craig Lemoult / For NPR

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Craig Lemoult / For NPR

Jessica Chaikof and her older sister, Rachel, were both deaf. At the time, the family did not know exactly why. The girls started using cochlear implants and continued.

“And so we live more or less our lives,” explains Chaikof.

But in 2006, when Chaikof was 11 years old, his older sister began to have vision problems and was diagnosed with type 1F Usher syndrome. It is a rare genetic disorder that causes deafness at birth, then, over time, blindness.

“My mother didn’t want to scare me, but they knew that if Rachel had it, I must also have it because it is genetic,” she recalls.

Chaikof is now 30 years old and a doctorate. Student at Brandeis University in the social policy program, where she focuses on disability and higher education policy. And it moves, especially at night, with the help of a guide dog – a yellow laboratory named Jigg.

Chaikof hopes that research on gene therapies could one day stop or even reverse the deterioration of its vision. But she is worried about the federal research funding – especially at Harvard – could mean that therapy will not be ready in time to save her sight.

“I don’t want to become blind,” says Chaikof. “And so this progression is really frightening, especially when I see the Trump administration cuts on research funding.”

The decision of a federal judge this week that funding should be restored for around 800 NIH licensed subsidies does not include the general cancellation of subsidies at Harvard University. This means that more than a billion dollars of the National Institutes of Health and National Science Foundation which have been allocated to Harvard but which have not yet been spent is now not available.

The Trump administration said that the end of Harvard’s subsidies was partly because of what it considers the university’s failure to fight anti -Semitism on the campus. USHER 1F, which would affect around 10 to 20 infants born in the United States each year, is particularly widespread among people descended from Ashkénazes Jewish populations.

“I really get angry because the Trump administration claims that they protect us. They are not,” says Chaikof. “They actively harm us. Especially when you attack funds for Ashkenazi Jews, Jewish diseases.”

Chaikof’s parents direct a foundation called the Usher 1F collaborativewhich is dedicated to supporting the development of gene therapies for Usher 1F. In 2017, Dr. David Corey, a Harvard scientist who studied the protein affected in these patients, met Jessica and his sister at a conference organized by the Foundation.

“And that really met the two girls and seeing how much they behaved with the challenges of the disease we said:” You know, we could be able to contribute something here. If we don’t do it, who else will do it? “”, Said Corey.

They now have a good understanding of the protein that is defective in patients with Usher 1F, says Corey.

“Because we know so much, we could design strategies to provide a normal copy of this protein, first in the inner ear and then to the retina,” he said.

It will take more research before starting the human trials of gene therapy that could correct this protein in patients, says Corey.

There are no existing subsidies at Harvard specifically concerning use 1F – and cancellations have therefore not yet had an impact directly on research – but Corey says that it has two subsidy requests submitted to the National Institutes of Health – and it is not optimistic about their approval.

“But even if they are noted very strongly by an examination committee, it is unlikely that these subsidies will be granted to Harvard,” he said. “It will really slow the search.”

Already, some of his research has stopped. Corey had an NIH grant terminated which supported fundamental science in the genetic hearing mechanism.

The NIH did not respond to a request for comments.

“Being on the verge of the development of therapies finally for certain diseases that we could only diagnose for decades, then to bring the carpet out of us – for the whole scientific company, not only Harvard – is really discouraging,” explains Corey.

Despite this, Corey said that Harvard’s trial contesting that the frost of federal funding will succeed. He says that when this happens, his subsidy requests will be there, ready to finance.

Jessica Chaikoff hopes he is right. She is convinced that genetic therapies could work.

“And this is the case, not only for my illness, but for any rare disease,” explains Chaikof.

So long, she said, because federal funding is available.