IDDB Research Programs

The following describes the branch’s research programs and program areas.

Cytogenetic abnormalities, which may include chromosomal trisomy (such as Down syndrome), mosaicism, or rearrangements, such as deletions or duplications, cause a significant proportion of cognitive impairment and morbidity and mortality, especially among infants and children. 

Advances in high-resolution cytogenomic analysis and the development of the molecular cytogenetics field, mainly through the application of fluorescence in situ hybridization and array-comparative genomic hybridization (CGH; also known as cytogenomic microarray analysis or CMA), provide opportunities for identifying subtle chromosomal rearrangements, such as cryptic deletions or duplications, in individuals with IDDs or genetic syndromes.

The application of massively parallel, high-throughput next-generation sequencing revolutionized many aspects of research and clinical medicine. The ability to analyze the whole exomes or whole genomes has allowed an unprecedented window into human health and disease. In the field of IDDs, genomic approaches are being used for diagnosis when a clear genetic syndrome or genetic cause has not previously been identified; it has the potential to uncover many new genes implicated in human neurodevelopment and neurological function. Other genetic conditions may be caused by mutations that affect epigenetic mechanisms or somatic mutations.

Studies of genetics, genomics, and epigenetics are a core portion of the IDDB portfolio and represent exciting new areas of research for NICHD.

Because biochemical pathways are fundamental to normal body and brain function, changes in those pathways can disrupt not only the pathway itself, but also the processes and functions that rely on the pathway’s products and byproducts. 

IDDB funds research on biochemical processes and metabolism as these topics relate to brain functioning, brain injury, and long-term consequences to the brain. The branch’s efforts include research in hypoxia/ischemia, mitochondrial disorders, and many inborn errors of metabolism, including urea cycle disorders, lysosomal storage disorders, errors of amino acid metabolism (e.g., phenylalanine hydroxylase deficiency or phenylketonuria), organic acidemias (e.g., propionic acidemia), and disorders of cholesterol metabolism, among others.

Because of the national movement to provide home and family care for people with IDDs, research on family and community issues is of special interest to the branch. Past supported research has addressed the processes of mutual influence between people with IDDs and other members of their families or communities and optimal strategies to promote learning and functional and adaptive skills in the school, community, and home environments.<,p>

IDDB supports studies of racial and ethnic influences on lifespan, family adaptation, and community acceptance of IDDs and on differential access to health care for those with IDDs, including prevalence of comorbid conditions.

Program Official: Melissa Parisi

Newborn screening research initiatives within NICHD and specifically within IDDB have experienced considerable growth during the past decade. Newborn screening enables identification of infants who are at risk for congenital disorders (often biochemical, hematologic, endocrinologic, and/or genetic) for which early interventions and treatments have the potential to reduce morbidity and mortality. 

Although routine screening has occurred at the state level since the 1970s, available screening tests have historically varied significantly by state; similarly, few states have evaluated the rationale for or efficacy of the tests systematically. Because these programs screen more than 4 million U.S. infants per year, newborn screening represents the most common form of genetic testing performed in the United States.

The Hunter Kelly Newborn Screening Research Program within IDDB focuses on developing systematic methods to identify conditions appropriate for newborn screening, developing and testing innovative interventions and treatments to improve outcomes, educating the provider workforce, developing and implementing appropriate information and communication systems for parents and providers, and sponsoring ongoing programs of research and research training in newborn screening. 

One of the resources created to support investigators in the newborn screening community is the Newborn Screening Translational Research Network (NBSTRN) External Web Site Policy, a contract awarded to the American College of Medical Genetics and Genomics to provide infrastructure for research to advance diagnostics and treatment of newborn screening disorders and conditions that may be amenable to newborn screening. Some of the resources developed by the network include a virtual repository of dried bloodspots, support for laboratory testing algorithms and decision matrices, and development of databases to allow long-term follow-up studies.

Program Official: Alice Kau

ASDs are complex neurodevelopmental disorders characterized by intellectual problems, language problems, and other medical or genetic conditions relate or contribute to autism, such as seizures or Fragile X syndrome. The most recent ASD prevalence estimates from the Centers for Disease Control and Prevention (CDC) are available at https://www.cdc.gov/ncbddd/autism/data.html.

During the last 20 years, NICHD has supported a considerable number of research projects related to ASDs.  NICHD’s past autism research efforts included the Collaborative Programs of Excellence in Autism (CPEA) Network on the Neurobiology and Genetics of Autism, which was co-funded by NIDCD, and the Studies to Advance Autism Research and Treatment (STAART) Network, with co-funding from the NIMH, NINDS, NIDCD, and NIEHS. 

In 2007, to maximize coordination and cohesion of NIH-sponsored efforts in autism research, NIH consolidated the CPEA and STAART Networks into the trans-NIH Autism Centers of Excellence (ACE) program. NICHD is one of the five NIH Institutes sponsoring the ACE program, which also includes NIMH, NINDS, NIDCD, and NIEHS. 

The ACE program includes research centers that foster collaboration between teams of specialists who share the same facility to address a particular research problem in depth. ACE research networks consist of researchers at many facilities throughout the country, all of whom work together on a single research question. In the initial round of funding, NIH funded six ACE research centers (via the P50 mechanism) and five ACE research networks (through the R01 mechanism). 

The ACE program was re-competed in 2012-2013 and again in 2017. Visit NIH awards nearly $100 million for Autism Centers of Excellence program for more information.

Additional information on the ACE program is available at https://www.nichd.nih.gov/research/supported/Pages/ace.aspx.

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