Through its intramural and extramural organizational units, the NICHD supports and conducts a broad range of research on Neuroscience. Short descriptions of this research are included below:
Institute Activities and Advances
Extramural Neuroscience Research
The NICHD supports research in the neurosciences through its extramural programs. To find out what NICHD components support neuroscience research and what types of neuroscience research they support, visit the Neuroscience Research Components: Extramural section of the Neuroscience Research Support at the NICHD website. You can also visit the Funding for Neuroscience Research page to see what funding opportunities the NICHD offers related to the neurosciences.
Brief descriptions of the NICHD components that support this research, as well as links to the websites for these components are listed below.
Intramural Neuroscience Research
The NICHD also conducts research in the neurosciences through its intramural research program.
Neuroscience Research Findings
Some recent NICHD science advances within the neurosciences are included below.
- Genetic cause of infertility associated with uterine fibroids
Uterine fibroids are tumors that arise within the wall of the uterus. They are the most common non-cancerous tumors in women of childbearing age. Uterine fibroids can cause pain and abnormal bleeding. Although uterine fibroids can make it difficult for a woman to get pregnant or maintain a pregnancy, scientists do not fully understand exactly how fibroids affect fertility.
A set of genes known as the tuberous sclerosis complex (TSC) can cause noncancerous tumors (like fibroids) to grow. To determine whether TSC genes were involved in infertility related to fibroids, scientists used a mouse model of TSC. They compared normal mice with mice lacking TSC and looked for differences throughout the reproductive system.
The scientists found that TSC was involved in several parts of different reproductive processes. For example, in mice without the TSC genes, many egg cells did not mature properly. Egg cells that did mature correctly were able to be fertilized, but they could not exit the fallopian tube to enter the uterus for implantation. The results from this study indicate that any disruption to the function of TSC could likely lead to infertility. Tanaka Y, Park JH, Tanwar PS, et al. Deletion of tuberous sclerosis 1 in somatic cells of the murine reproductive tract causes female infertility. Endocrinology 2012; 153(1):404-416. PMID: 22128018
- Improving Survival in a mouse model of spinal muscular atrophy (SMA)
SMA is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These neurons communicate with the muscles, especially in the arms and legs. SMA weakens muscles and can affect walking, crawling, breathing, swallowing and head and neck control. There are many types of SMA, and some of them are fatal. Life expectancy depends on the type of SMA and how it affects breathing. Unfortunately, there is no cure, although some treatments can be helpful.
SMA is caused by a mutation in the gene SMN1. This mutation decreases the amount of a specific protein in the nerve cells. In a mouse model of SMA, scientists were able to use a drug to stimulate production of the protein, and as a result the treated mice lived longer than those who did not receive the treatment. To understand how timing of treatments affects survival, researchers treated mice with spinal muscular atrophy at different time points after birth. It was found that early treatment, given for a short time, resulted in the longest survival for the affected mice. The development of similar treatments in humans could help improve survival rates in infants born with spinal muscular atrophy. Le TT, McGovern VL, Alwine IE, et al. Temporal requirement for high SMN expression in SMA mice. Human Molecular Genetics, 2011;20:3578-3591. PMID: 21672919
- Citicoline, Widely Used to Treat Traumatic Brain Injury (TBI), Found Not to Improve Functional and Cognitive Status
Citicoline, a naturally occurring compound in the human body, has been widely used abroad for the treatment of TBI. However, citicoline has not been approved by the U.S. Food and Drug Administration for TBI treatment in the United States. The compound has been tested in preliminary clinical trials, but in most of these studies citicoline did not appear effective in treating TBI.
NIH-supported scientists conducted a new large-scale clinical trial that tested citicoline across a broad spectrum of TBI, from mild to severe. Researchers studied the effects of citicoline on the functional and cognitive status of over 1,200 patients with mild, moderate, or severe TBI. The investigators assessed effects both in the acute (early) treatment phase and over time (at 3 months and 6 months). They found no significant difference, in terms of TBI patients’ functional or cognitive status, between patients given a placebo – a simulated “drug” without medical effect – and those treated with citicoline. Zafonte RD, Bagiella E, Ansel BM et al. Effect of citicoline on functional and cognitive status among patients with traumatic brain injury. JAMA 2012; 301:1993-2000. PMID: 23168823
- Improvements in learning in a Down syndrome animal model
Using a mouse model for Down syndrome, NICHD researchers showed that by administering neuroprotective peptides (small protein sub units) to mice before birth, they perform better on memory and learning tasks as adults. The peptides, NAP and SAL, are sub units of two proteins that are important in brain development because they enhance the ability of brain cells to receive and transmit signals, and enable them to survive. The mice in the study had an extra copy of mouse chromosome 16, which has counterparts to 55 percent of the genes on human chromosome 21. Mice with the extra chromosomal material that were treated with NAP and SAL in the womb learned as well as mice that did not have the extra chromosome, and significantly faster than mice with the extra chromosome that were treated with saline solution (placebo).
In an earlier study, NICHD researchers showed that when mice with the extra copy of chromosome 16 were treated with NAP and SAL in the womb, they achieved developmental milestones earlier than did untreated mice. In this earlier study, the researchers examined developmental milestones for sensory, motor skill, and muscle tone in the first three weeks of life. Together these study findings show that NAP and SAL treatments improve both physical development and learning ability in a mouse model for Down syndrome. M Inceri et al, “Prenatal Treatment Prevents Learning Deficit in a Down Syndrome Mouse Model”. PLoS One. 012;7(11):e50724. PMID: 23209818
- Understanding how endometriosis can lead to infertility
Endometriosis is a common reproductive disease where cells of the uterus grow in other areas of the body. The disease frequently causes severe pelvic pain, and many women with endometriosis experience infertility. Progesterone, a steroid hormone involved in the menstrual cycle and pregnancy, is thought to play an important anti-inflammatory role in the development of endometriosis. Researchers examined tissue from women with and without endometriosis to evaluate how the interaction between progesterone and the expression of a specific gene in the uterus affects the infertility associated with this disease.
Laboratory analysis of tissue samples showed a striking difference between women who had endometriosis and women who did not. In the healthy women, tissue samples exposed to progesterone showed an increase in the expression of a particular gene. By contrast, the tissues from women with endometriosis did not respond to progesterone in the same way—these tissues showed almost no gene expression at all. Scientists theorized that since the interaction between progesterone and this gene is important to the normal reproductive process, it is likely that disruptions in this interaction due to endometriosis contribute to infertility. Understanding the mechanisms underlying endometriosis-associated infertility may ultimately help researchers identify new treatment methods. Resuehr D, Glore DR, et al. Progesterone-dependent regulation of endometrial cannabinoid receptor type 1 (CB1-R) expression is disrupted in women with endometriosis and in isolate stromal cells exposed to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD). Fertility and Sterility, 2012, 0015-0282. PMID: 22789143
For more information about NICHD research in neuroscience, see the News Releases and Spotlights on Neuroscience.
Other Activities and Advances
Many of the Institute's projects and supported networks involve different aspects of neuroscience. The links below provide additional information.