AIDS research done by 17-year-olds: Day 2 at AAAS 2012

By Maggie Koerth-Baker

It's that time again. Maggie is back at the largest science convention in the Western Hemisphere for four days of wall-to-wall awesomeness. Each day, she'll tell you about some of the cool things she learned watching scientists from all over the world talk about their work. Check the bottom of each post to find links to earlier posts in this series!

Fifteen years ago, Dr. Harry Kestler got a call from a colleague in Florida who had inadvertently stumbled across a very unique family. An African-American woman had brought her sick child into the hospital only to discover that the child was HIV-positive and experiencing symptoms of AIDS. Further tests showed that she, herself, had HIV. As did four of her five children. It was a family tragedy. But in the midst of that, Kestler's colleague had noticed something odd.

The woman knew how she must have been infected—her ex-husband had been an intravenous drug user. But that had been more than 20 years ago. She, and her oldest child, had had HIV for over two decades without developing any symptoms. And her second-oldest child—who shared the same father—wasn't infected with HIV at all.

I've written here before about long-term non-progressors—a rare class of people who can be infected with HIV and live for decades without the virus ever developing into anything serious. Their secret: mutations in their genes that prevent HIV from binding to cells, which means it can't invade the cells or replicate.

Yesterday at the American Association for the Advancement of Science conference, I visited the student poster session, a place where undergraduate college students present research projects they're involved in and compete against one another to earn their poster a spot in an upcoming issue of the journal Science. There, among undergrads from MIT, Harvard, and other prestigious institutions, I met some surprising entrants. Eric McCallister—a student at Ohio's Lorain County Community College—and Megan Sheldon and Conner Anderson—two teenagers who go to high school at the same community college. All three of them are working with Harry Kestler to study the mutations that protect HIV non-progressors against an otherwise deadly virus. Unique researchers studying a unique family.

If you're not from the United States, you might not realize what a big deal this is. Research like this does not normally happen at community colleges. Instead, those schools are usually treated as a second-class system—a way for people to knock out two years' worth of college courses for less money, or just earn a two-year associates' degree. Lorain has partnerships with multiple traditional universities and allows students to take all but 30 credit hours of a four-year degree at the community college. They graduate with a full bachelor's degree from the four-year university. Because of that, the school offers more advanced classes than you can usually find at a community college, and it attracts highly-credentialed, research-oriented professors like Harry Kestler.

If you've heard about HIV non-progressors much at all, you've probably heard about one specific mutation called Delta 32. It's the most commonly talked about. "Basically, if you have this deletion mutation, there are 32 base pairs that should be in your gene sequence that just aren't there," Megan Sheldon told me. (Again, take a moment to process the fact that Megan is 17.) "When you loose those, it means you don't have this specific receptor on your cells and HIV can no longer bind to them."

Delta 32 mutations have been used to cure one man of HIV. In 2007, doctors killed off all the blood cells in the body of a man named Timothy Ray Brown, replacing them with a bone marrow transplant from a donor who carried the Delta 32 mutation.

If you're homozygous for Delta 32—that is, if you carry two copies of the gene that creates this mutation—you simply can't get HIV. About 1% of caucasians are homozygous, Sheldon said. If you're heterozygous, and have one copy of the gene, then you can contract HIV, but it will move very slowly, often taking 10 or even 20 years longer to progress into full-blown AIDS than would otherwise have happened.

Now that you know that, let's go back and talk about that anonymous family in Florida. They seem like they fit the patterns we're talking about here. But they didn't have the Delta 32 mutation. Their mutations were completely different. In fact, all three of the family members studied—the mother, and her two oldest children—had different mutations from one another. They represented three different paths to protection.

Eric McCallister, the college student who getting his bachelor's degree through that Lorain/university partnership, is doing research on blood samples from the second-oldest child—the one who never contracted HIV. Right now, he's trying to prove that this particular mutation—a shift in a single base, compared to the 32 base pair deletion you see with Delta 32—is, in fact, responsible for the child's ability to fend off HIV.

If he can prove that, though, it would be a big deal. I already mentioned that scientists have used Delta 32 mutations from one person to cure HIV in another person. This is not a cheap procedure, a safe procedure, nor a widely available one. The new mutation that McCallister is studying has the potential to remove one of the many roadblocks to curing HIV this way.

As with Delta 32-based treatments, doctors would still have to kill off all the blood cells in a patient's body. But, instead of needing to find a bone marrow donor who is both a match to patient and a carrier of Delta 32, McCallister says the single-point mutation could be induced in a sample of patient's own bone marrow. You'd remove some of their bone marrow, make the change, and then, after their blood cells had been killed off, transplant the altered version of their own marrow back into them.

As McCallister tries to prove he's found a better option for HIV treatment, his teenage colleagues are trying to document Delta 32 mutations in a more diverse swath of the population. Megan Sheldon, and her 16-year-old research partner Connor Anderson, got involved because they go to high school at Lorain County Community College. Every year, the school accepts 100 high school students through an application/lottery system. Those students attend class with college students through all four years of high school, graduating with both a high school diploma and an associates' degree. They'll have two years worth of college credits already knocked out.

Right now, Sheldon said, most of the research on Delta 32 mutations has been done in caucasian populations. When we say that the homozygous mutation is present in 1% of white people, that's not the same thing as saying that it's present in other populations. The truth is that we just don't know because those populations haven't been as well documented.

Sheldon and Anderson want to get a better idea of the rates of Delta 32 mutations within different racial and ethnic groups. Their current poster is basically a proof-of-concept, showing that they are capable of doing the research necessary to reach this goal. For their first study, the teenagers took blood samples from 50 students and teachers at a local high school. The data was completely anonymized. Although they want to study demographics of the mutation in the future, Sheldon and Anderson don't know anything about the people the current samples came from.

What they do know: Out of that 50 people, five were heterozygous for Delta 32. If any of those five contract HIV, they would be long-term non-progressors, going far longer without symptoms than other infected people.

A QUICK NOTE: Eric McCallister told me that the researchers have lost track of the anonymous family at the heart of his research. He knows that the mother eventually died from non-HIV causes, and that the third child—the one who was first brought to the hospital with symptoms of AIDS—died from the disease. But that's it. He doesn't know the family's real name. Or how the other members of the family are doing today. All he has are their blood samples. That's a big deal, because one of the unknowns here is whether the mutations were random or genetic. The fact that the mutations were only present in the children that shared both father and mother suggests a genetic link. But the fact that they all had completely different mutations suggests something more random. The child who didn't contract HIV—and whose mutation could represent a step forward in HIV treatment—might have inherited their protection, or they might have just gotten very, very lucky.

McCallister told me that he'd love to find this family, to let them know how they're contributing to the fight against AIDS, and to find out what's happened to them. I wanted to make a point of that here, on the off chance that this medical history sounds familiar to anyone.

Again: This is an African-American family from Florida—a mother and five children. The two oldest children share a father (now deceased) who had been an intravenous drug user and who was HIV positive. The three younger children share a different father. About 15 years ago, the third child became sick and was diagnosed with HIV, which led to diagnoses for the mother, the eldest child, and the two youngest. The second child never contracted HIV.

PREVIOUSLY FROM AAAS:

Image courtesy Flickr user TimoStudios via CC

Published 9:35 am Sun, Feb 19, 2012

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About the Author

Maggie Koerth-Baker is the science editor at BoingBoing.net. From August 2014-May 2015, she will be a Nieman-Berkman Fellow at Harvard University. You can follow Maggie's adventures in the Ivory Tower by subscribing to The Fellowship of Three Things newsletter.

16 Responses to “AIDS research done by 17-year-olds: Day 2 at AAAS 2012”

  1. Bookburn says:

    I’m sure everyone doing this research means well, but this case seems very similar to  The Immortal Life of Henrietta Lacks.

    • Oh, it reminded me of that as well. Which is one reason why I thought it might be useful to talk a little about the family here on the off chance that they might find out about this. If there’s one thing I learned from HELA it’s that transparency is better.

      It’s also worth noting that the high schoolers had to develop their own release forms for the testing project they did. And in those releases they specified to people what the blood samples they were taking would and would not be used for. “We will not clone you. We will not sell your samples to anyone.” That’s good practice that they’re learning going forward at least. 

    • John_Wilmot says:

      I had the same thought. 

  2. That_Anonymous_Coward says:

    It is exciting, given the history of research on HIV, to see people working on the science rather than who gets the credit.
     

  3. Harry Kestler here  I just wanted to add that two other Early College High School Students also presented at AAAS: Victoria Soewarna (age 16) and Alexandra Fulton (age 16) also presented.  Thank you for shining light on our Early Scientist Program.

  4. This was very interesting. Thank you.

  5. Ben Burger says:

    ummm “two teenagers who go to high school at the same community college.”  is that a mistake? or do I not understand the US education system?

    • It’s explained further down if you read the whole article. These students are participating in a very rare program where they take all their classes at the community college and graduate with a high school diploma and an associates’ degree (equivalent to two years worth of college credits). 

      It’s definitely not the norm for the US educational system. But it is pretty damn cool. 

  6. CyberIstari says:

     The high school-on-college-campus program is explained in the article. It’s not unique to there, and there are variations between programs (there are some around here, and even variations within one school system’s different programs), but I doubt its common either.

    • It’s definitely not common to the extent that they’re doing it. My high school allowed you to take some classes it didn’t offer through community college and earn college credit. But this is a lot more than that. These students never go to a normal high school. They take all their classes at the community college and graduate with an associates’ degree as well as the high school diploma. I’m sure there are a handful of other places that do that in the US, but it’s very, very rare. 

  7. KingManduca says:

    This is awesome, but I just have to wonder about informed consent. Did this family give informed consent to have their samples used for research? And the information about the family given here…maybe risking a breach in privacy? 

  8. Diana Shuman says:

    @boingboing-84d55bff9e1098161b4ccf1354363d99:disqus, yes, the family originally did give informed consent back in the early 90’s when their samples were taken.  As far as privacy is concerned, all information that is included in this article is relevant demographic information and for that reason, does not breach their privacy. It will also be included when the research gets published. Had we given names or initials or anything similar to that, it would be a different matter. While that information was originally available to Dr. Kestler, a system was put into place to remove any identifiable information with the exception of the birth order. IE parents and children are identified by their generation (A/B) and their order on the pedigree (I,II,III, etc).

    One correction to the high school kid’s work is that they took samples of cheek cells, using a cheek swabbing protocol that they designed, tested and perfected before beginning their project, not blood. As Dr. Kestler mentioned above, we cannot and must not forget the other two students that were presenting with Meghan and Connor, Victoria (the project’s principal investigator) and Alex, both 16 have been with the project since its inception and their hard is not overlooked. We also have an additional same sized group of high school sophomores (a year younger than this group) who joined our lab 7 months ago.

    As one of the leads in Dr. Kestler’s group, I must say a big thank you for covering our group and noticing what I’ve been telling them all along, what they do, is kinda a big deal and we’re all so very proud of them. The opportunity that Dr. Kestler has given all of us is an incredible blessing and we are so lucky to be able to take part.

  9. Joshua Snape says:

    It’s really good to see this going on but you should not be so suprised that 17 years are smart! 

  10. alphadeltaalpha says:

    One possible way to identify the family would be to try to match the DNA in the blood samples against various forensic databases. 

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