Creative Minds: Opening a Window on Alzheimer’s Before It Strikes

Yakeel Quiroz

Yakeel Quiroz

While attending college in her native Colombia, Yakeel T. Quiroz joined the Grupo de Neurociencias de Antioquia. This dedicated group of Colombian researchers, healthcare workers, and students has worked for many years with a large extended family in the northwestern district of Antioquia that is truly unique. About half of the more than 5,000 family members inherit a gene mutation that predisposes them to what is known locally as “la bobera,” or “the foolishness,” a devastating form of early-onset Alzheimer’s disease. Those born with the mutation are cognitively healthy through their 20s, become forgetful in their 30s, and descend into full-blown Alzheimer’s disease by their mid-to- late 40s. Making matters worse, multiple family members sometimes are in different stages of dementia at the same time, including the caregiver attempting to hold the household together.

Quiroz, now a researcher at Massachusetts General Hospital in Boston, vowed never to forget these families. She hasn’t, working hard to understand early-onset Alzheimer’s disease and helping to establish the Forget Me Not Initiative to raise money for affected families. With an NIH Director’s Early Independence Award, Quiroz also recently launched her own lab to pursue an even broader scientific opportunity: discover subtle pre-symptomatic changes in the brain years before they give rise to detectable Alzheimer’s. What she learns will have application not only to detect and possibly treat early-onset Alzheimer’s in Colombia but also to understand the late-onset forms of the dementia that affect an estimated 35.6 million people worldwide.

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Brain Imaging: Tackling Chronic Traumatic Encephalopathy

Brain scans of CTE and AD

Caption: Left to right, brain PET scans of healthy control; former NFL player with suspected chronic traumatic encephalopathy (CTE); and person with Alzheimer’s disease (AD). Areas with highest levels of abnormal tau protein appear red/yellow; medium, green; and lowest, blue.
Credit: Adapted from Barrio et al., PNAS

If you follow the National Football League (NFL), you may have heard some former players describe their struggles with a type of traumatic brain injury called chronic traumatic encephalopathy (CTE). Known to be associated with repeated, hard blows to the head, this neurodegenerative disorder can diminish the ability to think critically, slow motor skills, and lead to volatile, even suicidal, mood swings. What’s doubly frustrating to both patients and physicians is that CTE has only been possible to diagnose conclusively after death (via autopsy) because it’s indistinguishable from many other brain conditions with current imaging methods.

But help might be starting to move out of the backfield toward the goal line of more accurate diagnosis. In findings published in the journal PNAS [1], NIH-supported scientists from the University of California, Los Angeles (UCLA) and the University of Chicago report they’ve made some progress toward imaging CTE in living people. Following up on their preliminary work published in 2013 [2], the researchers used a specially developed radioactive tracer that lights up a neural protein, called tau, known to deposit in certain areas of the brain in individuals with CTE. They used this approach on PET scans of the brains of 14 former NFL players suspected of having CTE, generating maps of tau distribution throughout various regions of the brain.

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LabTV: Young Scientist Curious About How Cancer Cells Thrive

Craig RamirezThis week’s featured LabTV video takes us to New York City to see what’s going on in the world of Craig Ramirez, a young scientist who’s trying to find ways “to starve cancer cells.” Building on an interest in science that stretches back to first grade, this New Jersey native is busy working towards a Ph.D. in the lab of Dafna Bar-Sagi, an NIH-supported researcher at the NYU Langone Medical Center. (Oddly enough, Dr. Bar-Sagi and I actually collaborated more than 20 years ago when we were both junior professors on a project studying the genetic disease neurofibromatosis.)

Ramirez’s goal is to develop targeted approaches to disrupt the metabolism of cancer cells in ways that shrink or eliminate a patient’s tumor, while leaving healthy cells unharmed. He’s tackling this challenge by designing and conducting experiments on human cancer cell lines. But Ramirez isn’t working on this all alone. If he runs into an obstacle or needs to bounce an idea off someone, he just turns to his mentor or other colleagues in the friendly, fast-paced New York lab. By the way, it’s only natural that Ramirez would appreciate the value of strong teamwork—he was the starting shortstop on his high school baseball team!

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Hereditary Breast and Ovarian Cancers: Moving Toward More Precise Prevention

Homologous Hope sculpture

Caption: “Homologous Hope” sculpture at University of Pennsylvania depicting the part of the BRCA2 gene involved in DNA repair.
Credit: Dan Burke Photography/Penn Medicine

Inherited mutations in the BRCA1 gene and closely related BRCA2 gene account for about 5 to 10 percent of all breast cancers and 15 percent of ovarian cancers [1]. For any given individual, the likelihood that one of these mutations is responsible goes up significantly in the presence of  a strong family history of developing such cancers at a relatively early age. Recently, actress Angelina Jolie revealed that she’d had her ovaries removed to reduce her risk of ovarian cancer—news that follows her courageous disclosure a couple of years ago that she’d undergone a prophylactic double mastectomy after learning she’d inherited a mutated version of BRCA1.

As life-saving as genetic testing and preventive surgery may be for certain individuals, it remains unclear exactly which women with BRCA1/2 mutations stand to benefit from these drastic measures. For example, it’s been estimated that about 65 percent of women born with a BRCA1 mutation will develop invasive breast cancer over the course of their lives—which means approximately 35 percent will not. How can women in this situation be provided with more precise, individualized guidance on cancer prevention? An international team, led by NIH-funded researchers at the University of Pennsylvania, recently took an important first step towards answering that complex question.

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Of Microbes, Molecules, and Maps

3D molecular topographical skin maps

Bouslimani et al., PNAS

These glow-in-the-dark images may look like a 60’s rock album cover, but they’re actually a reflection of some way cool science. Here are maps showing the diversity of bacteria (left) and “acquired” molecules (right) on the skin of a healthy man. Blue indicates areas of least diversity; green/yellow, medium; and orange/red, the greatest.

To create these maps, NIH-funded researchers at the University of California, San Diego (UCSD), and their colleagues swabbed the skin of a male volunteer at roughly 400 spots to sample for bacteria. Then, they swabbed the same spots again to sample for chemicals and other types of molecules, natural or synthetic, that the man’s skin acquired over the course of his daily activities. Examples of such molecules include chemicals in shampoo and grooming products, polymers shed from clothing, and proteins released when skin cells are damaged or die.

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