Our Mission

NICHD seeks to support the translation of basic research observations into patient-oriented protocols whose ultimate aims are to validate the mechanistic basis of IDD in humans and to develop new approaches for the prevention, diagnosis and treatment of IDD. In addition to the following 5 targeted focus themes, there is broad recognition of the need to promote coordination of IDD-related research endeavors and integration of clinical trial efforts. The development of new technologies are also of high priority, as are projects that demonstrate cooperation among the Centers and integration of individual institutions into a network that may facilitate development of the infrastructure necessary for the conduct of larger research programs or clinical trials.



Targeted Areas Of Research

(1) Comprehensive –omic Approaches: Comprehensive -omic approaches (e.g., genomic, transcriptomic, epigenomic, metabolomic) that will markedly increase our understanding of IDD conditions with no known etiology or IDD conditions with complex etiologies to improve diagnosis, and potentially, treatment. Examples :

  • Whole exome or whole genome sequencing of a well-defined cohort of subjects with IDD to identify genetic or genomic variants likely to cause the phenotype;
  • Methylation or other studies on individuals with a shared IDD diagnosis but variable manifestations (such as range of cognitive function) to identify potential epigenetic contributors;
  • Tandem mass spectrometry on biological samples such as saliva, blood or urine from a group of individuals with metabolic or other disorders associated with intellectual disability that might define distinctive biomarkers or metabolic signatures that would allow monitoring of outcomes or response to treatment

(2) Outcome Measures for Interventions or Treatments: Development of preclinical or clinical outcome measures or biomarkers for the cognitive and/or behavioral phenotypes of IDD that have the potential to demonstrate a change in response to intervention or treatment. Examples include, but are not limited to:

  • Development of a measure for an animal model (e.g., mouse, rat, nonhuman primate) of an IDD disorder that reliably detects changes in behavior response to a drug treatment;
  • Development of a measure of cognitive function in individuals with an IDD condition that is sensitive to an intervention;
  • Demonstration of changes in an existing behavioral measure in individuals with an IDD condition in response to therapy.

(3) Multi-modal Treatment Approaches: Development of bi- or multi-modal treatment approaches for a single IDD condition or a group of IDD conditions or spectrum disorders to demonstrate combinatorial effects to ameliorate a cognitive or behavioral symptom(s) of the condition(s). The interventions may or may not be disease-specific, and the potential to broaden to multiple IDD disorders is encouraged. Examples include, but are not limited to:

  • Use of a drug and a training paradigm in an animal model of an IDD to demonstrate improvement in a behavioral measure;
  • Use of a medication and behavioral treatment in combination for individuals with an IDD condition to demonstrate improved efficacy
  • Use of one well-established intervention plus 1-2 medications to improve general symptoms of a mood disorder in individuals with different IDD conditions who share that mood disorder.

(4) Shared Resources Across IDDRCs for Treatment or Assessment: Development of an assessment battery or clinical intervention for an IDD condition or group of IDD conditions that links more than one funded IDDRC into a network, with sharing of at least one unique core resource from each IDDRC. Examples include, but are not limited to:

  • Development of an assessment paradigm for an allelic series of animal models for an IDD condition that uses the genomics core of one IDDRC and the animal behavioral core of another IDDRC;
  • Development of a testing paradigm for a specific IDD condition that uses the biostatistics core from one IDDRC and the human behavioral assessment core of another IDDRC;
  • Creation of a clinical trial for an IDD condition that utilizes the patient recruitment core from one IDDRC and the trial design core from another IDDRC.

(5) Public Health Approaches: Public health approaches to IDD that identify potentially preventable, modifiable, or treatable targets that can yield a rich payoff in ameliorating or improving outcomes for large groups of individuals with IDD or that will reduce risk of developing an IDD. These may include pre-conceptional, prenatal, postnatal or childhood exposures or risk factors, and may involve the broader family or community. Examples include, but are not limited to:

  • A project that addresses the risk of developing an IDD due to preterm birth;
  • A project that addresses maternal exposures to potential teratogens (alcohol, cocaine, cytomegalovirus, etc.) that predispose to IDD;
  • Development of a measure that attempts to reduce environmental factors (such as lead) that can contribute to IDD