DIR provides fundamental knowledge about the nature and behavior of living systems through basic, clinical, and population-based research. Scroll through the following slideshow to learn about select scientific advances from each affinity group.
Combining Therapeutic Strategies to Treat ALS
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the gradual deterioration and death of motor neurons, the nerve cells responsible for controlling voluntary muscle movement. Currently, there are very few treatment options for ALS, and those that are available have limited efficacy.
Read about a mouse study from the Le Pichon Lab that illustrates the promise of combining therapeutic strategies to effectively treat ALS.
Evaluating How Lipids Change During Early Pregnancy
Levels of cholesterol, triglycerides, and other blood lipids change during pregnancy and are critical for fetal development and a healthy pregnancy. Abnormal blood lipid levels are linked to adverse pregnancy outcomes and a higher risk for cardiovascular diseases in mother and child.
Read about work from the Epidemiology Branch on understanding how blood lipids change during early pregnancy.
Evaluating the Safety of Anesthesia for Children with Rare Diseases
Analyzing biological samples from people with rare neurometabolic diseases helps scientists advance the understanding and treatment of these conditions. Collecting such samples may require research study participants to undergo sedation, but little is known about the effects of anesthesia on people with these diseases.
Read about collaborative work led by Dr. An N. Dang Do of the Porter Research Group on sedation for children with rare diseases.
Understanding How Prefrontal Cortex Neuronal Activity is Coordinated
The prefrontal cortex is an important area of the brain that processes internal and external signals to produce goal-driven behaviors, including those affected by psychiatric and developmental disorders.
Read about work from the Buonanno Lab on signaling components that are essential for neurons located in this area of the brain.
Advancing Understanding of a Key Protein for Nervous System Development
Mutations in the genes that provide instructions for the adaptor protein 4 (AP-4) complex cause a form of hereditary spastic paraplegia characterized by weakness and stiffness in the muscles of the lower and upper limbs, intellectual disability and seizures, and brain malformations.
Read about work from the Bonifacino Lab that furthers understanding of AP-4 and how it is assembled within the cell.
Understanding the Role of “Jumping Genes” in Psychiatric Disorders
Transposable elements, sometimes called “jumping genes,” are DNA sequences that can move from one location to another. They’re estimated to make up nearly half of the human genome and are mostly inactive.
Read about work from the Levin Lab on identifying transposable elements that may be linked to psychiatric disorders.
Improving Understanding of Legionella Infection
Legionella pneumophila causes Legionnaires’ disease, a serious form of pneumonia. Understanding how the bacterium multiplies within infected cells will aid development of treatment and prevention strategies for Legionnaires' disease and related illnesses.
Read about work from the Machner Lab describing how L. pneumophila controls the expansion of small membrane-enclosed sacs within the host cell to accommodate growing numbers of bacterial progeny.
Assessing Changes in Fibroids During Pregnancy
Uterine fibroids are the most common noncancerous tumors in women of reproductive age. Because fibroids are potentially linked to pregnancy complications, scientists are working to understand the changes that these benign tumors may undergo during pregnancy.
Read about work from the Epidemiology Branch revealing that both initial fibroid volume and certain maternal characteristics are linked to changes in fibroid volume during pregnancy.
Identifying New Regulators of Bacterial Metabolism
Bacteria, including E. coli, have regulatory elements that boost survival when key nutrients like nitrogen are in short supply. Bacteria can alter their metabolic pathways to create new sources of nutrients or utilize different nutrients, creating contingencies against nutrient-poor environments.
Read about work from the Storz Lab on a new regulatory element—a small RNA called GlnZ—that connects nitrogen and carbon metabolism in gut bacteria.