Empowering basic biomedical research, which focuses on understanding how living systems work, is one of NIGMS’ main goals. This type of research not only helps us learn how our bodies and those of other organisms function but also lays the foundation for advances in disease diagnosis, treatment, and prevention.

We’re excited to see what the upcoming year has in store for the field! In preparation, we’re highlighting what NIGMS-supported scientists had to say in 2023 about the many merits of basic research. Also check out the links to the Biomedical Beat posts that feature them if you haven’t already.

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.

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.

“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.

“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.

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.

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.

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.