Gutmann believes the NF1 gene's behavior changes depending on other genes it interacts with. It varies, even in families, because many genes are polymorphisms, passed along not as exact copies, but with variations.

It's the same reason there are countless shades of blue eyes.

"My feeling is that what defines the behavior of the tumor that may arise in a person who is very young is different in a person who is nine or ten years old, or if you're a boy or a girl," Gutmann elaborates. "That could be very important. You wonder what the rest of the genes are and what are the effects of the other genes."

Dr. David Gutmann in the lab. He has been studying NF1 for more than twenty years. Slideshow: Kids with NF1 and their families at "Club NF"
Jennifer Silverberg
Dr. David Gutmann in the lab. He has been studying NF1 for more than twenty years. Slideshow: Kids with NF1 and their families at "Club NF"

Gutmann and Rubin have begun building a genome bank of DNA collected from patients who donate blood samples. So far they have nearly 300 genomes in their collection, but they want many, many more. If they understand how other genes interact with the NF1 gene, they may be able to predict which characteristics of the disease a patient is likely to develop even before the patient begins to exhibit symptoms — the headaches and blurry vision that are harbingers of a brain tumor, for instance — and prevent the tumor from taking root.

But how to prevent a tumor from growing? That question forms the bulk of the research in the NF Center's lab.

The scientists study how changes in the NF1 gene affect how its proteins interact with other proteins, in particular the ones that cause cells to start growing at an abnormally fast rate. They study how noncancerous cells create what Gutmann calls a "permissive environment" that allows cancer cells to proliferate. They study normal nerve cells to figure out what makes them shut down in the presence of an NF1 tumor. (This is the mechanism behind Daniel Crum's blindness.)

And they study stem cells. "All brain cells start as neurological stem cells," Gutmann explains. "We're interested in learning how they work, how they give rise to other cells in the brain, and tumors."

The brain contains 60 percent of the body's cells, many of which have their own special functions. NF1, as Rubin puts it, "takes the brakes off the normal control mechanism." The researchers want to understand how the NF1 gene affects how stem cells grow into their intended functions or turn into tumors instead.

The scientists are also trying to figure out what causes the NF1 gene to exert such a strong influence on thinking and coordination. Many NF1 patients have low muscle tone, and more than half have attention-deficit disorder and some sort of learning disability. Recent studies have shown that mice with both ADD and NF1 have lower levels of the chemical dopamine in their brains. Gutmann suspects it's probably true for people as well, which is why some of his patients with ADD have responded well to Ritalin, which raises dopamine levels.

Above all, though, Gutmann wants to treat his patients as human beings, more than the sum of their genes and cells and proteins.

"It's all about the families," he says. "Not about papers or grants."

In keeping with the collaborative nature of the center, Gutmann requires each patient to contribute to the ongoing research by participating in clinical and drug studies, by donating genetic information or by contributing to the Neurofibromatosis Type 1 Registry, a compilation of medical histories collected from Gutmann's patients and via the Internet. With the aid of a statistician from Wash. U.'s Brown School of Social Work, Team NF has been sorting through the data trying to find common trends and pinpoint the ages at which different symptoms tend to emerge.

"The trick is to identify subgroups and do individualized, personal medicine and find the group most likely to respond," Gutmann says. "That's the reality for NF1. It's a true melding of lab and clinic."

The patients and their families are a valuable source of information about what it's actually like to have NF1 — how it feels when you get hit on a neurofibroma, what it's like to deal with a disfiguring disorder, how to live with the uncertainty of what NF1 might bring next.

Gutmann is not above taking advice from his patients. "One, a girl in college now, e-mailed me recently and said she'd read on the Internet that garlic makes tumors shrink," he says. "I was about to type back, 'I don't think so, but thanks anyway, kiddo.' But she's a smart kid. I decided to pay attention. It turns out that garlic degrades the protein that NF regulates. I love that our families challenge us. They have to be part of the team. They're as important as the researchers and clinicians. They teach us about the condition."

In return, Gutmann teaches the patients about NF1. Gina Garbo, for one, has toured the lab and sat in on meetings and was so inspired that when she got to college, she decided she would, in her words, "pursue NF" by studying psychology and occupational therapy. When she graduates, she hopes to work in Gutmann's clinic.

Gutmann and his medical staff, which includes a nurse practitioner and a team of therapists and administrators, see patients in the clinic at St. Louis Children's Hospital every Thursday. Most patients visit once a year, more often in the event of complications that require monitoring. They come primarily from around the Midwest but from other parts of the nation as well.

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6 comments
mlmoyer55
mlmoyer55

Excellent article overall, most comprehensive real-world account of living with NF-1 I've seen. Thank you.

pam_hudson07
pam_hudson07

I found this article and research to be positive and hopeful.  Unfortunately, I am unable to share in this hope as I am presently watching a family member suffer with this condition without proper medical care. He underwent surgery while in grade school to remove tumors, and was given the diagnosis at that point.  Unfortunately, during that time, there was no discussion of ongoing treatment, neurological conditions, possible limitations, etc.  He currently has tumors on his back, lower adomen, and near his groin area which covers a lot of his body surface area considering he is over 30, but has the small frame of a 14-16 year old adolescent.  Without access to care, he self medicates, and his family has been unable to convince him to seek treatment due to financial limitations.  As I continue to search the WWW for methods to assist him, I would like to encourage all the parents with a child with this diagnosis to take advantage of all of the options that you receive regarding education, treatment, and DOCUMENTATION.  Unless this common disorder that no one has heard of is studied and documented more consistently, the symptoms (especially neurological) and affects on daily living will be considered unrelated as your 'seemingly normal' children are expected to become productive adults in society. 

jrisner
jrisner

Anon is correct and hopefully the author will update what is overall a very good article.  One of the challenges of NF1 is it's variability. Thankfully NF1 does not have the early death rates of some other genetic disorders (Huntington's disease, cystic fibrosis etc.) but you can die from it.  Most cases of early mortality occur when the plexiform tumors transform into Malignant Peripheral Nerve Sheath Tumors (MPSNT).  Fortunately this occurs in only 5-10% of the cases, but it is meaningful, and there are other complications of NF1 that can impact life expectancy.  John Risner

anon
anon

"One of the few certainties of an NF1 diagnosis is that the disease won't kill you."  A disappointing and inaccurate description of NF1. MPNST, tumor infringement on vital organs, airway obstruction, blood vessel anomalies leading to aneurysm/bleeding/stroke or other complications, and complications from severe hydrocephalus are just a few of the reasons people with NF1 lose their battle.  Common? no.... But these occur in NF patients and it is dismissive to make the claim listed above.  I am saddened that this sentence was included in an otherwise good article.  

scott19674
scott19674 topcommenter

Good story, strong work guys

 
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