Skip to content
Stanford chemist Eric Kool in his lab

Stanford researchers collaborate to develop test for a rare and deadly disease

Fanconi anemia inspired a collaboration between Stanford scientists to develop a method for detecting problematic molecules known as aldehydes.

A rare inherited disease called Fanconi anemia inspired a collaboration between Stanford scientists that could lead not only to treatments but to better detection of problematic molecules known as aldehydes.

Aldehydes sometimes tangle up the DNA in our cells, and people with Fanconi anemia lack the genes needed to sort it out. Those born with the condition can’t make red blood cells and require bone marrow transplants. They are susceptible to several types of cancer, and few make it past their twenties.

One problem in finding a treatment or cure is scientists’ inability to measure blood levels of aldehydes. But an interdisciplinary collaboration grant from Stanford ChEM-H may soon solve that problem, according to a recent Stanford press release:

'If we had a drug and we were doing clinical testing, we would love to be able to say, ‘here’s your aldehyde level before you started the drug, and here are the aldehyde levels in your blood cells after you started the drug,’ said Kenneth Weinberg, a professor of pediatric hematology and oncology.

If successful, such a test could help in developing a treatment to stop the aldehyde-induced DNA damage in people with Fanconi anemia and also help millions who are at risk of aldehyde-related cancers because of common genetic mutations or industrial exposure.

Weinberg and Eric Kool, PhD, a professor of chemistry, developed a way to detect aldehyde levels in blood samples by using Darkzone, a chemical that glows brightly in the presence of aldehyde. Their initial results were published in 2016, and now the researchers will improve and expand the method in order to use it in a clinical setting.

First, they will improve the light output of the chemical so that it’s easier to see. Then they will have to design a method of collecting blood that will minimize the loss of aldehyde to evaporation. The team is currently modifying a device that uses several hundred tiny needles to extract blood through the skin instead of drawing blood with a single needle from a vein.

The researchers hope that this method will make it easier to develop and assess treatments for aldehyde-associated diseases. Some aldehydes are also industrial toxins – formaldehyde, for example  – so the detection method could help efforts to reduce industry workers’ exposure to the compounds.

Photo of Eric Kool by L.A. Cicero

Popular posts

Sex biology redefined: Genes don’t indicate binary sexes

The scenario many of us learned in school is that two X chromosomes make someone female, and an X and a Y chromosome make someone male. These are simplistic ways of thinking about what is scientifically very complex.