DURHAM, N.C. (WGHP) — Doug Marchuk and his say they found the needle in the haystack.

Marchuk is a geneticist at Duke University, and his team has been studying a certain genetic issue for a while now called angiomas: a term for a vascular abnormality that develops, in this case, in the brain.

“They look like a little raspberry or strawberry in the brain. They show up on Magnetic Resonance Imaging (MRI), and a patient – an older person – might have one in the brain, and they may not even know it because if it doesn’t cause bleeding problems or headaches or anything like that,” Marchuk said. “You don’t go in and get a brain MRI for any particular reason, but that’s how they’re discovered.”

Erin Woodall knows all about that.

“At the first MRI, they showed four. And at this point in time, they said there are way too many to count,” Woodall said.

She is part of what is now a somewhat widespread set of people who had no idea they were related until Marchuk’s team found this issue which isn’t a misspelled gene sequence but one that is simply missing. 

“About 10, 15 years ago, we noticed something unusual,” Marchuk said. “Whereas almost every family has a different mutation because they’re not related to each other, we found eight cases of the identical mutation, and this mutation was really interesting because it was a deletion, so it was a very large piece of DNA mission…I use the equivalent of a whole state missing…in a map. Presumably, at some point in the past, there was some kind of misalignment and a big, big chunk got taken out. So there was 76,000 base pairs – a huge amount of DNA – that’s just missing.”

That’s the kind of anomaly a researcher can grab onto.

“The disease itself is extremely rare,” Marchuk said. 

Despite the fact that you can certainly tell when someone is missing that large portion of their genetic code, the researchers couldn’t put together the puzzle of who they should look at first.

“When we talked to the people, everybody said, ‘Well, I’m German, Irish, this, that,’ and there was no obvious connection,” Marchuk said. “We tend to assign them to some ethnicity or group when, in fact, because in America we’re so outbred and so mixed, we may be missing them.”

The best news from this is scientists and doctors can now put together a treatment protocol for the people who have it. For the past several years, Woodall hasn’t had much to work with.

“If I start having weird symptoms, we go straight to the ER,” she said. “The only option for us at this point in time is surgery, and they don’t want to do that unless you’re having a lot of problems. I’ve already had one removed, and I really hope I don’t have to go through that, again.”

See how the malformations develop in the brain and how far back this anomaly goes in this edition of the Buckley Report.