Research Highlights from the Division of Intramural Research (DIR): Text Alternative

Uncovering the Cause of a Rare Skeletal Disease

A DNA double helix. A flash of light indicates a mutated base pair.

Studying rare skeletal diseases can improve understanding of how bone formation is regulated.

Read about work from the Baron Lab that identified a novel way in which a genetic mutation leads to abnormal bone formation.

Precisely Defining Transcription Factor Binding Sites

Two proteins surround a DNA double helix. A flash of light appears at the center of the DNA-protein binding site.

Transcription factors control gene expression by binding to nearby DNA. Although scientists have developed techniques to identify the DNA sequence recognized by a certain transcription factor, transcription factors often bind to only a fraction of the predicted binding sites that occur in the genome.

Read about work from the Clark Lab to more precisely define transcription factor binding sites.

Characterizing Gene Expression Patterns in the Embryonic Brain

Left panel: A collection of green and purple dots forms a structure labeled LGE in the upper left. A collection of purple, blue, green, and yellow dots forms the MGE in the lower right. Right panel: A collection of red, green, yellow, and blue dots forms a large structure labeled CGE.

Inhibitory GABAergic interneurons are an incredibly diverse cell population that plays critical roles in nearly all brain activity. A better understanding of the mechanisms that regulate interneuron fate and maturation is critical to understand both normal brain development and the causes of certain neurological diseases.

Read about work from the Petros Lab to characterize the genetic diversity of the cells that give rise to interneurons in the fetal mouse brain.

Preventing Tumors that May Arise from Stem Cell Therapies

A collection of cells colored green, red, and blue forms a large circle.

Stem cells offer enormous promise for the field of regenerative medicine, but the risk that they may develop into tumors poses an obstacle to their clinical use.

Read about work from the DePamphilis Lab to prevent or eliminate tumors that may arise from the therapeutic use of stem cells.

Highlighting Health Disparities in Pregnancy

A pregnant woman sits in a wheelchair during a visit with her healthcare provider.

Pregnant women in the United States can face a range of health complications that are exacerbated by race and ethnicity, geography, and age. Less is known about how pregnant women with disabilities are affected.

Read about work from the Epidemiology Branch on risks specific to women with disabilities.

Identifying the Long-Term Health Effects of Pregnancy Loss

A pregnant woman wears a facemask and appears visibly tired in her kitchen.

Pregnancy loss occurs when a pregnancy unexpectedly ends before the 20th week. Studies suggest that women who experience a pregnancy loss may be at higher risk for long-term health problems like heart disease.

Read about work from the Epidemiology Branch on these long-term effects for women in the United States.

Understanding Synaptic Regulation in the Hippocampus

The top image shows the brain section with merged staining. The bottom row contains three images with separate stains for (from left to right) nuclei, Cav2.3, and Kv4.2.

Neurons in the brain communicate using chemical messengers called neurotransmitters, as well as electrical signals from various types of charged ions, including calcium and potassium. Small gaps in between neurons, called synapses, serve as hubs for transmitting and regulating this information.

Read about work from the Hoffman Lab on a new synaptic ion channel partnership that regulates electrical currents in the hippocampus.

Developing Live Imaging Technologies for Researchers

The image is zoomed in on the zebrafish head, with the eye (pink) and various vessel (green) visible against a black background.

Zebrafish are model organisms for a variety of scientific disciplines, including developmental biology, neuroscience, and oncology. Imaging live adult zebrafish is challenging, but NICHD researchers have developed new methods that enable long-term imaging of zebrafish and cavefish, another aquatic model used by scientists.

Read about imaging work from the Weinstein Lab.

Developing Methods to Identify Disease-Causing Mutations

The 3D rendering appears against a black background.

RNAs carry various instructions for cells. Messenger RNAs are translated into proteins, and non-coding RNAs, such as tRNAs, carry out other important functions in a cell. Mutations in enzymes that modify tRNAs lead to a variety of human diseases.

Learn about a versatile and relatively easy method developed by the Maraia Lab that helps identify these types of mutations.

 

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