Tag: Diseases

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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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Got Calcium?

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Someone’s hand moving to scroll through this blog post is possible because of a mineral that both gives bones their strength and allows muscles to move: calcium. As the most abundant mineral in our bodies, it’s essential for lots of important functions. It’s found in many foods, medicines, and dietary supplements.

A graphic showing calcium’s symbol “Ca”, atomic number, and atomic weight connected by lines to illustrations of teeth and bones, cheese, and a cement-mixing truck (calcium carbonate is used in construction). Calcium keeps your bones strong, allows your muscles to move, and is important for many other bodily functions. The element is found in foods, medicines, and the world around us. Credit: Compound Interest CC BY-NC-ND 4.0. Click to enlarge.
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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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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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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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The Science of Infectious Disease Modeling

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What Is Computer Modeling and How Does It Work?

Recent news headlines are awash in references to “modeling the spread” and “flattening the curve.” You may have wondered what exactly this means and how it applies to the COVID-19 pandemic. Infectious disease modeling is part of the larger field of computer modeling. This type of research uses computers to simulate and study the behavior of complex systems using mathematics, physics, and computer science. Each model contains many variables that characterize the system being studied. Simulation is done by adjusting each of the variables, alone or in combination, to see how the changes affect the outcomes. Computer modeling is used in a wide array of applications, from weather forecasting, airplane flight simulation, and drug development to infectious disease spread and containment.

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PECASE Honoree Sohini Ramachandran Studies the Genetic Foundations of Traits in Diverse Populations

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Headshot of Sohini Ramachandran. Sohini Ramachandran, Brown University.
Credit: Danish Saroee/Swedish Collegium for Advanced Study.

Recent advances in computing enable researchers to explore the life sciences in ways that would have been impossible a few decades ago. One new tool is the ability to sequence genomes, revealing people’s full DNA blueprints. The collection of more and more genetic data allows researchers to compare the DNA of many people and observe variations, including those shared by people with a common ancestry.

Sohini Ramachandran Link to external web site, Ph.D., is director of the Center for Computational Molecular Biology and associate professor of biology and computer science at Brown University in Providence, Rhode Island. She is also a recent recipient of the Presidential Early Career Award for Scientists and Engineers (PECASE). Dr. Ramachandran researches the causes and consequences of human genetic variations using computer models. Starting with genomic data from living people, her lab applies statistical methods, mathematical modeling, and computer simulations to discover how human populations moved and changed genetically over time.

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Crowdsourcing Science: Using Competition to Drive Creativity

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Six student researchers sitting around a table and collaborating on a project. Credit: iStock.

Historically, crowdsourcing has played an important role in certain fields of scientific research. Wildlife biologists often rely on members of the public to monitor animal populations. Using backyard telescopes, amateur astronomers provide images and measurements that lead to important discoveries about the universe. And many meteorologists use data collected by citizen scientists to study weather conditions and patterns.

Now, thanks largely to advances in computing, researchers in computational biology and data science are harnessing the power of the masses and making discoveries that provide valuable insights into human health.

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Block an Enzyme, Save a Life

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Vern Schramm in his lab, dressed in a white lab coat, standing with his arms folded across his chest. Vern Schramm, professor of biochemistry at Albert Einstein College of Medicine, Bronx, New York. Credit: Albert Einstein College of Medicine.

Enzymes drive life. Without them, we couldn’t properly digest food, make brain chemicals, move—or complete myriad other vital tasks. Unfortunately, in certain cases, enzymes also can trigger a host of health problems, including cancer, bacterial infections, and hypertension (high blood pressure).

Understanding how enzymes work has been the research focus of Vern Schramm for more than 4 decades.

“When we started our work, we were driven not by the desire to find drugs, but to understand the nature of enzymes, which are critical to human life,” Schramm says. But his research already led to one drug, and promises many more.

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PECASE Honoree Elizabeth Nance Highlights the Importance of Collaboration in Nanotechnology

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Black and white microscopic image of a capillary supplying blood to brain cells. A network of capillaries supplies brain cells with nutrients. Tight seals in their walls keep blood toxins—and many beneficial drugs—out of the brain. Credit: Dan Ferber, PLOS Biol 2007 Jun; (5)6:E169. CC by 2.5 Link to external web site.

The blood-brain barrier—the ultra-tight seal in the walls of the brain’s capillaries—is an important part of the body’s defense system. It keeps invaders and other toxins from entering the human brain by screening out dangerous molecules. But the intricate workings of this extremely effective barrier also make it challenging to design therapeutics that would help us. And as it turns out, getting a drug across the blood-brain barrier is only half the battle. Once it’s across, the drug needs to effectively target the right cells in the brain tissue. With this in mind, it’s no surprise that challenges this complex are solved through collaboration among scientists from several different specialties.

Elizabeth Nance Link to external web site, an assistant professor of chemical engineering at the University of Washington in Seattle and a recent recipient of the Presidential Early Career Award for Scientists and Engineers (PECASE), focuses her research on understanding the barriers in the brain and other cell- and tissue-based barriers in the body to see how nanoparticles interact with them. Her lab uses nanoparticles to package therapies that will treat newborn brain injury, which can occur when the brain loses oxygen and blood flow, often during or immediately prior to delivery. This damage can lead to cerebral palsy, developmental delays, or sometimes death. Early interventions for newborn brain injury can be valuable, but they need to target specific, injured cells without harming healthy ones.

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