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.
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.
“DNA is an amazingly beautiful molecule, and it’s so important. Each of our cells has only one copy of DNA, and if it gets damaged, that messes up everything else in the cell,” says Alexis Komor, Ph.D., an assistant professor of chemistry and biochemistry at the University of California, San Diego (UCSD). Check out the highlights of our interview with Dr. Komor to learn about her scientific journey, research on DNA, and advice for students.
Q: How did you decide to study chemistry?
A: I really enjoyed math and science in middle and high school. When I applied to college, I knew I wanted to major in science over math because I felt like it was more relevant to what we experience on a day-to-day basis. I ultimately went into chemistry for a silly reason, but looking back now, I’m so very grateful that I did. Chemistry has this nice balance because it allows you to not only understand how things work on a molecular level but also see how those molecular workings relate to everyday phenomena—for example, understanding how DNA damage on a molecular level can lead to negative health outcomes.
“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 geneticvariants, 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.
When you encounter the word expression, you may think of a smile, a grimace, or another look on someone’s face. But when biologists talk about expression, they typically mean the process of gene expression—when the information in a gene directs protein synthesis. Proteins are essential for virtually every process in the human body.
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:
In everyday use, most people understand translation to mean converting words from one language to another. But when biologists talk about translation, they mean the process of making proteins based on the genetic information encoded in messenger RNA (mRNA). Proteins are essential for virtually every process in our bodies, from transporting oxygen to defending against infection, so translation is vital for keeping us alive and healthy.
Genes are segments of DNA. They contain instructions for building one or more molecules that help the body work. Researchers in the field of genetics study genes and heredity—how certain traits are passed from parents to their offspring through DNA. NIGMS supports many scientists who investigate the genetics of people and research organisms to better understand human health and disease.
Take our quiz below to test how much you know about genetics. Then check out our new fact sheet on genetics to learn more. For more quizzes and other fun learning tools, visit our activities and multimedia webpage.
As computers have advanced over the past few decades, researchers have been able to work with larger and more complex datasets than ever before. The science of using computers to investigate biological data is called bioinformatics, and it’s helping scientists make important discoveries, such as finding versions of genes that affect a person’s risk for developing various types of cancer. Many scientists believe that almost all biologists will use bioinformatics to some degree in the future.
However, bioinformatics isn’t always included in college biology programs, and many of today’s researchers received their training before bioinformatics was widely taught. To address these gaps, the bioinformatics cores of the five Northeast IDeA Networks of Biomedical Research Excellence (INBREs)—located in Maine, Rhode Island, Delaware, Vermont, and New Hampshire—have worked together to offer basic bioinformatics training to students and researchers. The collaboration started in 2009 with a project where researchers sequenced the genome of a fish called the little skate (Leucoraja erinacea) and used the data to develop trainings.
A fruit fly expressing GFP. Credit: Jay Hirsh, University of Virginia.
During the holiday season, twinkling lights are a common sight. But no matter what time of the year, you can see colorful glows in many biology labs. Scientists have enabled many organisms to light up in the dark—from cells to fruit flies and Mexican salamanders. These glowing organisms help researchers better understand basic cell processes because their DNA has been edited to express molecules such as green fluorescent protein.