Category: Injury and Illness

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Propelling Rare Disease Research for More Than 50 Years

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Many small, plastic vials, one of which a robot arm is lifting from an illuminated tray.
Vials of samples from the NIGMS HGCR. Credit: Coriell Institute for Medical Research.

The year 2022 marked 50 years since the creation of the NIGMS Human Genetic Cell Repository (HGCR) at the Coriell Institute for Medical Research in Camden, New Jersey. The NIGMS HGCR consists of cell lines and DNA samples with a focus on those from people with rare, heritable diseases. “Many rare diseases now have treatments because of the samples in the NIGMS HGCR,” says Nahid Turan, Ph.D., Coriell’s chief biobanking officer and co-principal investigator of the NIGMS HGCR. She gives the example of a rare disease advocacy group who worked with the NIGMS HGCR to establish a cell line several decades ago. It was used to identify a gene associated with the disease, which aided in the development of five treatments that have received approval from the Food and Drug Administration.

Researchers have also studied NIGMS HGCR’s samples to help advance knowledge of basic biology and genetics, and even to support the development of a vaccine for a deadly virus.

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A Tale of Tails: How Reptile Regeneration Could Help Humans

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A profile picture of Dr. Lozito wearing a white lab coat.
Dr. Thomas Lozito. Credit: Chris Shinn for USC Health Advancement Communications.

“I’ve always been interested in science and in lizards. I got my first pet lizard when I was around 4 years old, and it was love at first sight,” says Thomas Lozito, Ph.D., who now studies the creatures as an assistant professor of orthopaedic surgery, stem cell biology, and regenerative medicine at the University of Southern California (USC) in Los Angeles.

During his childhood, Dr. Lozito turned his parents’ house into a “little zoo” of lizards and amphibians. He sneaked lizards into his dorm room as a college student at Johns Hopkins University in Baltimore, Maryland, where he earned his bachelor’s degree in biomedical engineering. While pursuing his Ph.D. in stem cell biology through a joint program between the National Institutes of Health and Cambridge University in England, he bred lizards and frogs and sold them to earn extra money.

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Five Outstanding Stories From 2022

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Throughout 2022, we shared the stories of dozens of NIGMS-supported researchers, trainees, and programs. We also highlighted new STEM education resources, tested your knowledge with quizzes, showcased extraordinary scientific images, and more. To celebrate the upcoming new year, we’re highlighting five of our most popular posts from 2022. Check out the list below, and let us know in the comments section which of this year’s posts you liked best!

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Empowering Biomedical Research in Rural West Virginia

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Public health crises often disproportionately impact rural America. Sally L. Hodder, M.D., works to alleviate these disparities, especially regarding the opioid crisis and the COVID-19 pandemic. She’s the director of the West Virginia Clinical and Translational Science Institute (WVCTSI), the associate vice president of clinical and translational research, and a professor of medicine at West Virginia University.

A headshot of Dr. Sally Hodder.
Dr. Sally Hodder. Credit: West Virginia University.

Dr. Hodder’s work is focused in West Virginia, but her results are valuable assets to researchers across the country. Not only does treating chronic diseases in rural populations contribute to the overall understanding of those diseases, but engaging with and involving people in those communities in research makes science more accessible to them. Dr. Hodder says, “When folks participate in the science, when there is good community discussion about the trial designs and the results, then I think those populations may be more trusting of the results.”

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Advancing American Indian and Alaska Native Health Through Research, Training, and Engagement

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American Indian and Alaska Native (AI/AN) populations have long experienced health disparities such as higher rates of diabetes, certain cancers, and mental health conditions than those of other Americans. One contributing factor in these disparities is underrepresentation of AI/AN populations in biomedical science—as study participants, researchers, and health professionals. Unfamiliarity with health care options and opportunities, coupled with a distrust of biomedical research resulting from unethical studies in the past, have exacerbated this underrepresentation.

NIGMS-supported researchers, including Native scientists, are partnering with AI/AN Tribes to help reduce health disparities by conducting research focused on AI/AN health priorities and building infrastructure that supports research in those communities. They’re also preparing Native students to pursue careers in science and medicine. In this post, you’ll meet four scientists advancing AI/AN health.

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Quiz: Antibiotic Resistance and Researchers Studying It

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Antibiotics are a class of drugs that treat bacterial infections. They may seem common now, but they were discovered less than a century ago. In 1928, Alexander Fleming, a scientist studying bacteria, found that mold from his bread kept bacteria from growing. He determined that “mold juice” was able to kill different types of harmful bacteria, and he and his assistants worked to figure out what natural product in the mold was actually causing the killing. It turned out to be penicillin!

Thanks to Fleming’s discovery, doctors have been successfully treating bacterial infections with penicillin and other newer antibiotics. But in recent years, some infections that were once treatable with antibiotics no longer respond to them. Some of these infections can be treated with multiple rounds of different antibiotic treatments, but others aren’t treatable at all—even leading to death in some cases.

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In Other Words: Insult—A “Sick Burn” or a Burn That Makes You Sick?

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You probably think of a rude or offensive remark when you think of the word insult, but to biomedical researchers, an insult is the cause of some kind of injury to the body. Insults can come in a variety of forms, such as an infection or a physical trauma.

Below the title “Insult: In Other Words,” two images are separated by a jagged line. On the left is a woman covering her face with both hands as an eye looks at her and a mouth shouts at her. On the right are spherical bacteria on a rough surface. Under the images, text reads: “Did you know? In biomedical science, an insult is the cause of some kind of injury to the body.”
Credit: NIGMS.
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Hunting Disease-Causing Genetic Variants

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A headshot of Dr. Meisler.
Dr. Miriam Meisler. Credit: University of Michigan Medical School.

“In my lab, we’ve been gene hunters—starting with visible phenotypes, or characteristics, and searching for the responsible genes,” says Miriam Meisler, Ph.D., the Myron Levine Distinguished University Professor at the University of Michigan Medical School in Ann Arbor. During her career, Dr. Meisler has identified the functions of multiple genes and has shown how genetic variants, or mutations, can impact human health.

Becoming a Scientist

Dr. Meisler had a strong interest in science as a child, which she credits to “growing up at the time of Sputnik” and receiving encouragement from her father and excellent science teachers in high school and college. However, when she started her undergraduate studies at Antioch College in Yellow Spring, Ohio, she decided to explore the humanities and social sciences. After 2 years of sociology and anthropology classes, she returned to biomedical science and, at a student swap, symbolically traded her dictionary for a slide rule—a mechanical device used to do calculations that was eventually replaced by the electric calculator.

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Public Alerted to Omicron in New Mexico Through Quick Detection

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A sphere with spikes on the outside cut open to reveal a long strand.
Genetic material inside a virus. Credit: iStock.

Over the past 2 years, you’ve probably heard a lot about the spread of SARS-CoV-2—the virus that causes COVID-19—and the emergence of variants. The discovery and tracking of these variants is possible thanks to genomic surveillance, a technique that involves sequencing and analyzing the genomes of SARS-CoV-2 virus particles from many COVID-19 patients. Genomic surveillance has not only shed light on how SARS-CoV-2 has evolved and spread, but it has also helped public health officials decide when to introduce measures to help protect people.

In December 2021, the NIGMS-supported SARS-CoV-2 genomic surveillance program at the University of New Mexico Health Science Center (UNM HSC) in Albuquerque detected the first known case of the Omicron variant in the state, which enabled a rapid public health response. The program’s co-leaders, assistant professors Darrell Dinwiddie, Ph.D., and Daryl Domman, Ph.D., were watching on high alert for it to enter New Mexico, and when it did, they were poised to quickly identify it:

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From MARC Student to MacArthur Fellow

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Dr. Torres standing in a lab holding a Petri dish.
Dr. Víctor J. Torres. Credit: Keenan Lacey, Ph.D.

“I study the dance between a bacterium and its host. If we can decode the secrets of that dance—how the pathogen causes disease, and how the host fights back—we might be able to take advantage of vulnerabilities to improve our ability to combat infections,” says Víctor J. Torres, Ph.D., the C. V. Starr Professor of Microbiology at the New York University (NYU) Grossman School of Medicine in New York City.

Discovering and Pursuing a Passion for Science

Growing up, Dr. Torres never would have imagined his highly successful scientific career, especially since he didn’t have a strong interest in science. He entered the University of Puerto Rico, Mayagüez, in 1995, planning to participate in the Reserve Officers’ Training Corps and join the Air Force after graduation. He struggled during his first year of college and had to repeat several courses. In one of those courses, he met a fellow student who was planning to pursue a career in science—his now wife, Carmen A. Perez, M.D., Ph.D., who’s a radiation oncologist at NYU Langone. She shared with Dr. Torres some of the opportunities in science available to him, including the NIGMS-funded Maximizing Access to Research Careers (MARC) program at their university.

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