Tag: Scientific Process

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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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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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Sparking Rural Students’ Interest in STEM

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When asked why he leads the NIGMS-supported Science Education Partnership Award (SEPA) program at Dartmouth College in Hanover, New Hampshire, Roger D. Sloboda, Ph.D., the Ira Allen Eastman Professor of Biological Sciences (emeritus), shares a story. Several years ago, he learned of a public-school science teacher in rural New Hampshire who had a very limited budget for classroom equipment. With her annual budget, she’d been able to buy a single stainless-steel laboratory cart. “Next year, I hope to buy a piece of equipment to put on it,” she said. A short time later, Dr. Sloboda attended a scientific meeting and talked to a student from a private school in Washington, D.C., who was presenting a poster about his research project studying the effects of household chemicals on zebrafish development. Dr. Sloboda asked the student how he was able to work with zebrafish, because they require specialized, expensive facilities. The student responded that his school maintained its own zebrafish facility.

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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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How Bacteria-Infecting Viruses Could Save Lives

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A headshot of Dr. Young.
Dr. Ry Young. Credit: Texas A&M University.

“My parents told me that I already wanted to be a scientist when I was 7 or 8 years old. I don’t remember ever considering anything else,” says Ry Young, Ph.D., a professor of biochemistry, biophysics, and biology at Texas A&M University, College Station.

Dr. Young has been a researcher for more than 45 years and is a leading expert on bacteriophages—viruses that infect bacteria. He and other scientists have shown that phages, as bacteriophages are often called, could help us fight bacteria that have developed resistance to antibiotics. Antibiotic-resistant infections cause more than 35,000 deaths per year in the U.S., and new, effective treatments for them are urgently needed.

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Cloudy With a Chance of Scientific Discoveries

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The cloud. To many, it’s a mysterious black hole that somehow transports photos and files from their old or lost phone to their new one. To some researchers, though, it’s an invaluable resource that allows them access to data analytics tools they wouldn’t otherwise have.

Hands typing on a laptop with a digitized cloud and computer icons floating above them.
Credit: iStock.

Scientists have begun using cloud computing to store, process, and analyze their data through online bioinformatics tools. Biological data sets are often large and hard to interpret, requiring complex calculating instructions—or algorithms—to understand them. Fortunately, these algorithms can run on local computers or remotely through cloud computing.

One advantage of cloud-based programs over local computers is the ability to analyze data without taking up the user’s personal storage space. With cloud-based storage, researchers can store their large data files, including their labeled notes called annotations. Another benefit is that users have easy access to software packages within the cloud for data analysis. The cloud also encourages collaboration among scientists by making it easy to share large amounts of data.

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How Research Works: Understanding the Process of Science

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Have you ever wondered how research works? How scientists make discoveries about our health and the world around us? Whether they’re studying plants, animals, humans, or something else in our world, they follow the scientific method. But this method isn’t always—or even usually—a straight line, and often the answers are unexpected and lead to more questions. Let’s dive in to see how it all works.

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Quiz: What Can Research Organisms Reveal About Health?

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Scientists often use research organisms to study life. Examples range from simple organisms like bacteria to more complex ones such as mice. NIGMS funds studies of research organisms to understand biological processes that are common to all organisms, including humans. Errors in these fundamental processes can cause disease, and better understanding of these malfunctions can aid in the development of potential treatments.

Research organisms may also reveal novel biological processes that can lead to important scientific or medical technologies. For example, researchers studying interactions between viruses and bacteria made a discovery that led to the CRISPR (clustered regularly interspaced short palindromic repeats) gene-editing system, which was recognized by the 2020 Nobel Prize in chemistry.

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More Than 25 Years of Competition and Collaboration Advance the Prediction of Protein Shapes

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Proteins (such as hemoglobin, actin, and amylase) are workhorse molecules that contribute to virtually every activity in the body. Some of proteins’ many jobs include carrying oxygen from your lungs to the rest of your body (hemoglobin), allowing your muscles to move (actin and myosin), and digesting your food (amylase, pepsin, and lactase). All proteins are made up of chains of amino acids that fold into specific 3D structures, and each protein’s structure allows it to perform its distinct job. Proteins that are misfolded or misshapen can cause diseases such as Parkinson’s or cataracts.

While it’s straightforward to use the genetic code to predict amino acid sequences of proteins from gene sequences, the vast diversity of protein shapes and many factors that influence a protein’s 3D structure make it much more complicated to create simple folding rules that could be used to predict proteins’ structures from these sequences. Scientists have worked on this problem for nearly 50 years, and NIGMS has supported many of their efforts, including the Critical Assessment of Structure Prediction (CASP) program.

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Accelerating the Development of Tests for Endometriosis and Cancer

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NIGMS’ Small Business Technology Transfer (STTR) program works toward more effective methods for patient screening, diagnosis, and treatment.

Translating lab discoveries into health care products requires large investments of time and resources. Through STTR funding, NIGMS supports researchers interested in transitioning their discoveries and/or inventions into products. Here are the stories of three researchers working with the XLerator Hub, one of the funded programs that supports six southeastern IDeA states and Puerto Rico.

Ending Diagnostic Delays for Endometriosis

A headshot of Dr. Idhaliz Flores-Caldera. Dr. Idhaliz Flores-Caldera.
Credit: Courtesy of Dr. Flores-Caldera.

Idhaliz Flores-Caldera, Ph.D., a professor of basic sciences and OB-GYN at Ponce Health Sciences University in Puerto Rico, has studied endometriosis for nearly 20 years. Endometriosis occurs when endometrial tissue, which typically lines the uterus, grows elsewhere in the body. Dr. Flores-Caldera first had the idea for a noninvasive diagnostic test for the disorder about 10 years ago. But it was only when she learned about funding opportunities from the XLerator Hub that she saw a path to validating her preliminary research findings and eventually commercializing her test.

Dr. Flores-Caldera applied for and was accepted into the hub’s proof-of-concept program, Ideas to Products, which funds researchers to flesh out ideas they want to commercialize. “I am very appreciative of how the program has provided me with tools and knowledge about commercializing a product and the process of patenting a product,” she says. “In general, scientists aren’t educated on this important topic.”

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