Families with children suffering from rare Usher 1F syndrome get fresh hope of finding cure

The grant was awarded to the Usher 1F Collaborative in Boston by “Rare As One”, which targets rare diseases.

It is funded by the Chan Zuckerberg Initiative (CZI), which was established in 2015 by Mr Zuckerberg and his wife Dr Priscilla Chan.

The genetic mutation that predominantly causes Usher 1F in Ashkenazi Jews is estimated to have originated 14 generations — or approximately 350 years — ago, and likely came from a single carrier of the mutated gene, according to a 2003 study by the US National Institute of Health.

The Collaborative’s president Melissa Chaikof, whose two adult daughters suffer from Usher 1F, said the disease was “a personal toll on those who have it and their families.”

“There are these periods in Jewish history where the Jews were all in a shtetl and so it was a spontaneous mutation in one person that then spread through,” Ms Chaikof told the JC. “The rest is history.”

The widening Jewish diaspora in the centuries that followed has resulted in reports of cases around the world.

News of the CZI grant was welcomed as far afield as Melbourne, where Daniel Feller, whose eight-year-old son Harry was born with the disease, said “a win for one of us is a win for all of us”.

He said this week: “Harry was born profoundly deaf, with severe balance problems, and throughout his childhood and adulthood will become progressively blind. There are currently no effective treatments, so new approaches are desperately needed.”

Mr Feller, who was born and raised in Golders Green before moving to Melbourne in 2004, is co-founder of Genetic Cures Australia, a body that financially supports trials for new therapies.

Harry’s DNA is currently being used by a research laboratory in Hobart, Tasmania to test new experimental forms of gene therapy, and Mr Feller says he feels positive about new treatments becoming available soon.

“There’s so few of us in the world who are working on or are affected by Usher syndrome type 1F, that a win for any single one of us is like we’ve raised the money ourselves.”

The Collaborative’s president, Melissa Chaikof, whose two adult daughters suffer from Usher 1F, said the disease was “a personal toll on those who have it and their families.”

She told the JC: “Imagine slowly having your vision fade. To say that we’re in a race against time is not just a cliché. If my girls could keep the vision that they have right now, they could lead perfectly normal lives, except for not driving.

“So that’s my goal — to first save what they’ve got, stop it from progressing further. And then, to restore what they’ve lost as well.

“And for the younger kids, halting it would mean they could probably even drive during the day.”

Rather than funding research, the CZI grant is designed to help grow the organisation, so it is capable of drawing more funding in the future.

At the direction of CZI, the Usher 1F Collaborative plan to use $75,000 of the money to hold the first international research conference on the disease, set to take place at the Harvard Medical School at the start of October, to bring researchers together.

Another venture the grant will help complete is a natural history study — a vital step before pharmaceutical companies will take an interest in developing a cure.

While common diseases can have clinical trials, rare diseases such as Usher 1F do not have a sufficient number cases to reliably test.

A natural history study documents the progression of the disease in the absence of treatment over a number of years.

“We’ve talked to two pharmaceutical companies about taking on Usher 1F and they won’t even look at us without a natural history study,” Ms Chaikof added.

The Collaborative is currently funding research into three different types of gene therapy, which seek to correct or replace the faulty gene in those affected. If they prove successful, the methods they employ could be adapted for other genetic diseases.