The EKSIDDRC program, established one year after the NICHD’s founding, supports researchers whose goals are to advance understanding of a variety of conditions and topics related to Intellectual and Developmental Disabilities (IDD). The NICHD Intellectual and Developmental Disabilities (IDDB) Branch funds the program, which includes 15 research centers, located at universities and children’s hospitals throughout the country.
Until 2013, the EKSIDDRCs relied on a core grant mechanism (P30) to fund infrastructure research cores that supported independently funded, IDD-relevant projects, as well as a small portion of new program projects. This structure allowed the centers to support substantially more projects and investigators than would be possible using NICHD support alone.
In 2012, the IDDB sponsored a workshop, Charting a New Course for IDD Research, at which thought leaders from the IDD and affiliated communities gathered to formulate research themes that represented new opportunities for IDD research in the next 5 to 15 years. Participants articulated a need to emphasize translational research and applying knowledge of the genetic, biochemical, and molecular etiologies of many forms of IDD to develop treatment paradigms for these conditions. As a consequence, the cycle of staggered competitions for the EKSIDDRC program beginning in 2013 changed to the cooperative agreement mechanism (U54) to allow greater integration of center activities with IDDB initiatives.
Centers are still encouraged to have cores to provide infrastructure support for IDD-relevant investigator projects but, in addition, they must support a Clinical Translational Core to promote development of clinical applications from basic science discoveries. Centers must also support an entirely new research component project that utilizes the Cores of the center and addresses one of the five themes identified at the 2012 workshop:
- Comprehensive “–omic” approaches to IDD
- Outcomes measures for interventions or treatments
- Multi-modal treatment approaches
- Shared resources across IDDRCs for treatment or assessment
- Public health approaches to IDD
Since the start of the new mechanism, c enters have offered a variety of different research services through their cores, including bioinformatics and biostatistics; genomic, proteomic , and metabolomics facilities; cellular neuroimaging and optogenetic services; neuroimaging including MRI, DTI and spectroscopy; and animal and human behavioral testing . Specific research projects have included evaluation of animal and humans with ASDs, multimodal treatment studies in fragile X syndrome; and studies of complementary treatments for a rodent model of hypoxic encephalopathy.
Many studies involve collaborations with researchers outside the program to leverage multiple funding sources. Although the centers differ in many aspects, including their scientific focus, size, lifespan, and history, they also share their commitment to creating integrated research opportunities for investigators engaged in basic, clinical, and translational science related to IDD.
Areas of research for center investigators have included studies of:
- Chromosomal conditions that cause IDD, such as Prader-Willi syndrome, Angelman syndrome, Williams syndrome, and Down syndrome;
- Conditions identified by newborn screening associated with cognitive impairment;
- Other conditions that are characterized by IDD;
- X-chromosome disorders, such as Rett syndrome and Fragile X syndrome, that result in IDD;
- Disorders that involve biochemical processes and metabolic issues related to brain functioning, brain injury, or long-term consequences to the brain, such as hypoxia, very low birth weight, Phenylketonuria, and prenatal malnutrition; and
- Biological or biochemical mechanisms that cause behavioral problems, such as those found in autism spectrum disorders, self-injurious behavior, and impairments in language development.
Current sites within the EKS-IDDRC program are: