Researching Alport syndrome with ZEISS multibeam ion microscopy
A ZEISS team in Peabody, USA is hard at work developing the multibeam ion microscope ZEISS ORION NanoFab. This instrument makes it possible to uncover kidney diseases that previously remained a mystery – a technique that can save lives.
Two colleagues from completely different departments are connected through technology – John Notte, chief scientist and Don Burl, Materials Manager at ZEISS. With an article from Science Report, Notte proudly made his way to the bulletin board.
Using ZEISS ORION NanoFab developed here, doctors were recently able to uncover tiny details of a mouse kidney that was infected with the Alport syndrome. This was a vital step in understanding the origins of this rare genetic kidney disease that affects one in 7,500 children. Right next to his article he noticed another, more personal message – it was from Burl. It reads:
“As many of you know, I’ve already had three kidney transplants and am currently waiting for my fourth.”
Burl hoped to raise awareness among his colleagues about the Boston Kidney Walk, a fundraising event where money is raised for the National Kidney Foundation.
Notte was taken aback – he had no idea about what his colleague just a few desks away was going through. Once he returned to his desk, he learned more about Alport syndrome, which was mentioned in the article. “I read about how the disease also causes hearing impairment,” says Notte. Remembering that Don uses hearing aids, Notte thought to himself: “This might not be a coincidence!” – How right he was! Suddenly, work on the multiple ion beam microscope became a lot more personal.
“It was a special moment for me when I found out what our microscope is actually capable of,” says Burl.
Despite his disease, he leads a normal life. His job is to purchase the myriad of specialized parts for the highly complex instrument at the best price and delivery schedule. He had no idea that the parts he orders could have an impact on his own life.
“When I told my friends about it, they were all shocked. I’m working on something that could, one day, help cure my disease. And that makes me very proud indeed.”
In fact, this renewed sense of pride is felt by all the ZEISS employees who work on the product.
Details in the nanometer range
The high-performance machine means that doctors can now find out all about different kidney diseases. The instrument can deliver images in the nanometer range and thus provide a detailed look at the structure of dysfunctional tissue. It could even save a colleague’s life.
Alport syndrome is a genetic disorder, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect sight, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses.
The disorder was first identified in a British family by University of Edinburgh Medical School graduate Cecil A. Alport in 1927.
Alport syndrome is caused by an inherited defect in type IV collagen – a structural protein that is needed for the normal function of different parts of the body. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body.