Month: February 2023

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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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Students With Visual Impairments Empowered to Explore Chemistry Through SEPA Project

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High school students in lab coats and safety goggles feeling tactile graphics while two scientists perform demonstrations of experiments in fume hoods. Dr. Shaw stands in the background.
Dr. Shaw (back left) observes SEPA program students engaging with tactile graphics in his lab. Credit: Jordan Koone

Students with blindness and low vision are often excluded from chemistry labs and offered few accessible representations of the subject’s imagery, which can significantly hinder their ability to learn about and participate in chemistry. Bryan Shaw, Ph.D., a professor of chemistry and biochemistry at Baylor University in Waco, Texas, hopes to change that through a program funded by an NIGMS Science Education Partnership Award (SEPA). His inspiration to start the program came from his son, who is visually impaired due to childhood eye cancer, and his son’s friends who have also experienced partial or complete vision loss.

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Career Conversations: Q&A With Evolutionary Biologist William Ratcliff

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Dr. Ratcliff wearing a lab coat and safety goggles and sitting at a microscope.
Dr. William Ratcliff. Credit: Courtesy of Dr. William Ratcliff.

“Being a researcher is special because there aren’t many jobs that allow you to spend the majority of your time thinking about the things you find the most interesting in the whole world,” says William Ratcliff, Ph.D., an associate professor of biological sciences and the director of the interdisciplinary graduate program in quantitative biosciences at Georgia Institute of Technology (Georgia Tech) in Atlanta. We talked with Dr. Ratcliff about his career path, research on yeast, and advice to budding scientists.

Q: How did you first become interested in science?

A: My family owns land in Northern California that has been passed down for more than 100 years. When I was a child, my brother and I would spend summers on that land getting lost in the woods. We would really see the forest for its parts: seeing how organisms interacted with one other, tracking stages of development, and listening to birdcalls. My grandmother would identify plants by their scientific names, and we’d discuss their reproduction strategies. We became amateur natural historians during those summers. Perhaps it’s no surprise my brother and I both got Ph.Ds. in biology.

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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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